Mutations in ABCC7
reference sequence
Region |
Mutation |
|
|
Publications |
Sentences |
MutMiner_hits |
SNAP2 |
PROVEAN |
Effect_ExpVar |
CL0 |
p.Met
1
Val
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
D |
CL0 |
p.Arg
3
Trp
|
details |
homologous mutations |
2 |
2 |
2 |
D |
D |
? |
CL0,L0 |
p.Pro
5
Leu
|
details |
homologous mutations |
3 |
3 |
3 |
D |
D |
D |
CL0,L0 |
p.Val
11
Ile
|
details |
homologous mutations |
2 |
7 |
7 |
N |
N |
? |
CL0,L0 |
p.Val
11
Cys
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
CL0,L0 |
p.Ser
13
Phe
|
details |
homologous mutations |
6 |
129 |
139 |
D |
D |
|
CL0,L0 |
p.Ser
13
Ala
|
details |
homologous mutations |
2 |
16 |
17 |
D |
N |
? |
CL0,L0 |
p.Ser
13
Tyr
|
details |
homologous mutations |
1 |
1 |
2 |
D |
D |
? |
CL0,L0 |
p.Ser
13
Cys
|
details |
homologous mutations |
1 |
3 |
3 |
D |
D |
? |
CL0,L0 |
p.Lys
14
*
|
details |
homologous mutations |
2 |
2 |
2 |
- |
- |
|
CL0,L0 |
p.Lys
14
Arg
|
details |
homologous mutations |
1 |
22 |
22 |
N |
N |
? |
CL0,L0 |
p.Leu
15
Pro
|
details |
homologous mutations |
3 |
12 |
12 |
D |
D |
? |
CL0,L0 |
p.Trp
19
Cys
|
details |
homologous mutations |
7 |
28 |
31 |
D |
D |
|
CL0,L0 |
p.Trp
19
*
|
details |
homologous mutations |
1 |
1 |
1 |
- |
- |
? |
CL0,L0 |
p.Leu
24
Phe
|
details |
homologous mutations |
1 |
3 |
3 |
N |
N |
|
CL0,L0 |
p.Gly
27
Glu
|
details |
homologous mutations |
6 |
13 |
18 |
D |
D |
|
CL0,L0 |
p.Gly
27
*
|
details |
homologous mutations |
6 |
14 |
15 |
- |
- |
|
CL0,L0 |
p.Gly
27
Arg
|
details |
homologous mutations |
2 |
11 |
11 |
D |
D |
|
CL0,L0 |
p.Gly
27
Val
|
details |
homologous mutations |
1 |
4 |
5 |
D |
D |
? |
CL0,L0 |
p.Arg
29
Lys
|
details |
homologous mutations |
10 |
32 |
35 |
N |
N |
? |
CL0,L0 |
p.Gln
30
*
|
details |
homologous mutations |
10 |
11 |
11 |
- |
- |
|
CL0,L0 |
p.Arg
31
Cys
|
details |
homologous mutations |
36 |
103 |
119 |
D |
N |
|
CL0,L0 |
p.Arg
31
Leu
|
details |
homologous mutations |
10 |
50 |
54 |
D |
N |
|
CL0,L0 |
p.Arg
31
His
|
details |
homologous mutations |
1 |
3 |
3 |
N |
N |
? |
CL0,L0 |
p.Leu
32
Met
|
details |
homologous mutations |
2 |
5 |
6 |
N |
N |
? |
CL0,L0 |
p.Asp
36
Asn
|
details |
homologous mutations |
1 |
3 |
4 |
D |
D |
? |
CL0,L0 |
p.Asp
36
Lys
|
details |
homologous mutations |
2 |
2 |
2 |
D |
D |
? |
CL0,L0 |
p.Tyr
38
Ala
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
CL0,L0 |
p.Gln
39
*
|
details |
homologous mutations |
16 |
21 |
22 |
- |
- |
D |
CL0,L0 |
p.Ser
42
Phe
|
details |
homologous mutations |
9 |
19 |
21 |
D |
D |
D |
CL0,L0 |
p.Asp
44
Val
|
details |
homologous mutations |
2 |
2 |
2 |
D |
D |
? |
CL0,L0 |
p.Asp
44
Gly
|
details |
homologous mutations |
2 |
3 |
3 |
D |
D |
|
CL0,L0 |
p.Ala
46
Asp
|
details |
homologous mutations |
5 |
20 |
23 |
D |
N |
|
CL0,L0 |
p.Asp
47
Ala
|
details |
homologous mutations |
1 |
5 |
5 |
N |
D |
? |
CL0,L0 |
p.Leu
49
Pro
|
details |
homologous mutations |
1 |
6 |
7 |
D |
D |
? |
CL0,L0 |
p.Ser
50
Pro
|
details |
homologous mutations |
5 |
27 |
30 |
D |
N |
|
CL0,L0 |
p.Ser
50
Tyr
|
details |
homologous mutations |
3 |
8 |
9 |
N |
N |
|
CL0,L0 |
p.Glu
54
Cys
|
details |
homologous mutations |
1 |
51 |
55 |
N |
D |
? |
CL0,L0 |
p.Glu
54
Ala
|
details |
homologous mutations |
2 |
15 |
15 |
N |
D |
? |
CL0,L0 |
p.Glu
56
Lys
|
details |
homologous mutations |
5 |
15 |
18 |
N |
N |
|
CL0,L0 |
p.Glu
56
Leu
|
details |
homologous mutations |
1 |
1 |
1 |
N |
D |
? |
CL0,L0 |
p.Glu
56
Gly
|
details |
homologous mutations |
1 |
6 |
9 |
N |
N |
? |
CL0,L0 |
p.Trp
57
Gly
|
details |
homologous mutations |
5 |
14 |
16 |
D |
D |
|
CL0,L0 |
p.Trp
57
*
|
details |
homologous mutations |
9 |
12 |
13 |
- |
- |
D |
CL0,L0 |
p.Trp
57
Arg
|
details |
homologous mutations |
1 |
3 |
5 |
D |
D |
|
CL0,L0 |
p.Asp
58
Cys
|
details |
homologous mutations |
1 |
51 |
52 |
N |
D |
? |
CL0,L0 |
p.Asp
58
Ala
|
details |
homologous mutations |
2 |
15 |
15 |
N |
N |
? |
CL0,L0 |
p.Asp
58
Asn
|
details |
homologous mutations |
3 |
37 |
42 |
N |
N |
|
CL0,L0 |
p.Asp
58
Gly
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
|
CL0,L0 |
p.Glu
60
*
|
details |
homologous mutations |
103 |
199 |
221 |
- |
- |
D |
CL0,L0 |
p.Glu
60
Ala
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
D |
CL0,L0 |
p.Glu
60
Lys
|
details |
homologous mutations |
4 |
18 |
21 |
D |
N |
D |
CL0 |
p.Pro
67
Leu
|
details |
homologous mutations |
50 |
105 |
113 |
N |
D |
D |
CL0 |
p.Pro
67
Ser
|
details |
homologous mutations |
2 |
66 |
71 |
D |
D |
? |
CL0 |
p.Lys
68
Glu
|
details |
homologous mutations |
5 |
17 |
18 |
D |
N |
|
CL0 |
p.Lys
68
Asn
|
details |
homologous mutations |
5 |
8 |
8 |
D |
N |
|
CL0 |
p.Lys
68
*
|
details |
homologous mutations |
1 |
1 |
1 |
- |
- |
? |
CL0 |
p.Lys
68
Arg
|
details |
homologous mutations |
1 |
23 |
23 |
N |
N |
? |
CL0 |
p.Leu
69
His
|
details |
homologous mutations |
4 |
55 |
60 |
D |
D |
? |
CL0 |
p.Leu
69
Gly
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
CL0 |
p.Leu
69
Ala
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
CL0 |
p.Ala
72
Asp
|
details |
homologous mutations |
3 |
3 |
3 |
D |
D |
|
CL0 |
p.Leu
73
Phe
|
details |
homologous mutations |
1 |
4 |
4 |
D |
D |
? |
CL0 |
p.Arg
74
Trp
|
details |
homologous mutations |
76 |
242 |
300 |
D |
N |
D |
CL0 |
p.Arg
74
Gln
|
details |
homologous mutations |
7 |
14 |
17 |
D |
N |
|
CL0 |
p.Arg
75
Gln
|
details |
homologous mutations |
126 |
479 |
609 |
D |
N |
|
CL0 |
p.Arg
75
*
|
details |
homologous mutations |
46 |
85 |
90 |
- |
- |
D |
CL0 |
p.Arg
75
Glu
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
D |
CL0 |
p.Arg
75
Leu
|
details |
homologous mutations |
4 |
5 |
6 |
D |
D |
|
CL0 |
p.Cys
76
Ser
|
details |
homologous mutations |
4 |
5 |
5 |
D |
D |
? |
CL0 |
p.Cys
76
Trp
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
CL0 |
p.Cys
76
Arg
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
CL0 |
p.Trp
79
*
|
details |
homologous mutations |
3 |
3 |
4 |
- |
- |
|
CL0 |
p.Trp
79
Arg
|
details |
homologous mutations |
1 |
2 |
2 |
N |
D |
|
CL0 |
p.Arg
80
Glu
|
details |
homologous mutations |
1 |
3 |
3 |
D |
N |
? |
CL0 |
p.Met
82
Ile
|
details |
homologous mutations |
1 |
6 |
6 |
N |
N |
? |
CL0 |
p.Met
82
Val
|
details |
homologous mutations |
3 |
9 |
12 |
N |
N |
? |
TMD1,TH1 |
p.Tyr
84
His
|
details |
homologous mutations |
2 |
3 |
3 |
D |
N |
? |
TMD1,TH1 |
p.Gly
85
Glu
|
details |
homologous mutations |
303 |
802 |
982 |
D |
D |
D |
TMD1,TH1 |
p.Gly
85
Val
|
details |
homologous mutations |
8 |
27 |
30 |
D |
D |
|
TMD1,TH1 |
p.Gly
85
Ala
|
details |
homologous mutations |
1 |
15 |
15 |
D |
N |
? |
TMD1,TH1 |
p.Phe
87
Ile
|
details |
homologous mutations |
3 |
21 |
21 |
D |
N |
|
TMD1,TH1 |
p.Phe
87
Leu
|
details |
homologous mutations |
1 |
2 |
2 |
D |
N |
|
TMD1,TH1 |
p.Phe
87
Cys
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
TMD1,TH1 |
p.Leu
88
*
|
details |
homologous mutations |
9 |
21 |
23 |
- |
- |
|
TMD1,TH1 |
p.Leu
88
Ser
|
details |
homologous mutations |
5 |
5 |
5 |
N |
N |
|
TMD1,TH1 |
p.Tyr
89
Cys
|
details |
homologous mutations |
3 |
27 |
30 |
N |
D |
|
TMD1,TH1 |
p.Leu
90
Ser
|
details |
homologous mutations |
3 |
3 |
3 |
D |
N |
|
TMD1,TH1 |
p.Gly
91
Arg
|
details |
homologous mutations |
47 |
137 |
147 |
D |
D |
D |
TMD1,TH1 |
p.Gly
91
Glu
|
details |
homologous mutations |
3 |
11 |
15 |
D |
N |
D |
TMD1,TH1 |
p.Gly
91
Cys
|
details |
homologous mutations |
3 |
8 |
8 |
D |
D |
D |
TMD1,TH1 |
p.Gly
91
Ala
|
details |
homologous mutations |
3 |
22 |
26 |
D |
N |
D |
TMD1,TH1 |
p.Glu
92
Lys
|
details |
homologous mutations |
40 |
113 |
134 |
N |
D |
D |
TMD1,TH1 |
p.Glu
92
*
|
details |
homologous mutations |
16 |
20 |
23 |
- |
- |
D |
TMD1,TH1 |
p.Glu
92
Ala
|
details |
homologous mutations |
3 |
25 |
44 |
D |
D |
D |
TMD1,TH1 |
p.Glu
92
Asn
|
details |
homologous mutations |
1 |
1 |
1 |
D |
N |
D |
TMD1,TH1 |
p.Glu
92
Cys
|
details |
homologous mutations |
2 |
6 |
6 |
D |
D |
D |
TMD1,TH1 |
p.Thr
94
Ser
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
TMD1,TH1 |
p.Thr
94
Ile
|
details |
homologous mutations |
1 |
13 |
17 |
D |
N |
? |
TMD1,TH1 |
p.Lys
95
Asp
|
details |
homologous mutations |
17 |
23 |
23 |
D |
N |
? |
TMD1,TH1 |
p.Lys
95
Gln
|
details |
homologous mutations |
12 |
124 |
145 |
D |
N |
? |
TMD1,TH1 |
p.Lys
95
Arg
|
details |
homologous mutations |
2 |
3 |
3 |
N |
N |
? |
TMD1,TH1 |
p.Lys
95
Glu
|
details |
homologous mutations |
3 |
7 |
7 |
D |
N |
? |
TMD1,TH1 |
p.Lys
95
Met
|
details |
homologous mutations |
1 |
1 |
1 |
D |
N |
? |
TMD1,TH1 |
p.Lys
95
Cys
|
details |
homologous mutations |
12 |
109 |
120 |
D |
D |
? |
TMD1,TH1 |
p.Lys
95
Ala
|
details |
homologous mutations |
4 |
24 |
37 |
D |
N |
? |
TMD1,TH1 |
p.Lys
95
Ser
|
details |
homologous mutations |
3 |
34 |
58 |
D |
N |
? |
TMD1,TH1 |
p.Lys
95
His
|
details |
homologous mutations |
1 |
7 |
7 |
D |
N |
? |
TMD1,TH1 |
p.Ala
96
Glu
|
details |
homologous mutations |
2 |
2 |
2 |
D |
N |
|
TMD1,TH1 |
p.Ala
96
Val
|
details |
homologous mutations |
1 |
3 |
3 |
N |
N |
? |
TMD1,TH1 |
p.Ala
96
Cys
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
TMD1,TH1 |
p.Val
97
Ala
|
details |
homologous mutations |
2 |
2 |
2 |
D |
D |
? |
TMD1,TH1 |
p.Gln
98
*
|
details |
homologous mutations |
8 |
17 |
23 |
- |
- |
D |
TMD1,TH1 |
p.Gln
98
His
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
D |
TMD1,TH1 |
p.Gln
98
Arg
|
details |
homologous mutations |
27 |
65 |
76 |
N |
N |
|
TMD1,TH1 |
p.Gln
98
Ala
|
details |
homologous mutations |
1 |
4 |
4 |
D |
D |
D |
TMD1,TH1 |
p.Gln
98
Cys
|
details |
homologous mutations |
7 |
94 |
104 |
D |
D |
D |
TMD1,TH1 |
p.Gln
98
Pro
|
details |
homologous mutations |
1 |
2 |
3 |
D |
D |
|
TMD1,TH1 |
p.Gln
98
Lys
|
details |
homologous mutations |
1 |
10 |
10 |
D |
N |
D |
TMD1,TH1 |
p.Pro
99
Leu
|
details |
homologous mutations |
12 |
52 |
60 |
D |
D |
|
TMD1,TH1 |
p.Pro
99
Ala
|
details |
homologous mutations |
3 |
25 |
28 |
D |
D |
? |
TMD1,TH1 |
p.Pro
99
Cys
|
details |
homologous mutations |
6 |
17 |
17 |
D |
D |
? |
TMD1,TH1 |
p.Pro
99
Gly
|
details |
homologous mutations |
2 |
21 |
24 |
D |
D |
? |
TMD1,TH1 |
p.Leu
101
Cys
|
details |
homologous mutations |
1 |
2 |
3 |
N |
D |
? |
TMD1,TH1 |
p.Leu
101
*
|
details |
homologous mutations |
1 |
1 |
1 |
- |
- |
|
TMD1,TH1 |
p.Leu
102
Pro
|
details |
homologous mutations |
1 |
27 |
37 |
D |
D |
|
TMD1,TH1 |
p.Leu
102
Cys
|
details |
homologous mutations |
4 |
96 |
108 |
N |
D |
? |
TMD1,TH1 |
p.Leu
102
Arg
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
TMD1,TH1 |
p.Gly
103
*
|
details |
homologous mutations |
1 |
1 |
1 |
- |
- |
? |
TMD1,TH1 |
p.Gly
103
Cys
|
details |
homologous mutations |
1 |
4 |
4 |
D |
D |
? |
TMD1,TH1 |
p.Gly
103
Glu
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
TMD1,TH1 |
p.Arg
104
Cys
|
details |
homologous mutations |
6 |
47 |
49 |
D |
D |
? |
TMD1,TH1 |
p.Arg
104
Glu
|
details |
homologous mutations |
2 |
21 |
28 |
D |
N |
? |
TMD1,TH1 |
p.Arg
104
Gln
|
details |
homologous mutations |
3 |
18 |
21 |
N |
N |
? |
TMD1,EL1 |
p.Ile
105
Asn
|
details |
homologous mutations |
4 |
7 |
8 |
D |
D |
|
TMD1,EL1 |
p.Ile
106
Cys
|
details |
homologous mutations |
1 |
4 |
4 |
N |
D |
? |
TMD1,EL1 |
p.Ala
107
Val
|
details |
homologous mutations |
1 |
6 |
6 |
N |
N |
? |
TMD1,EL1 |
p.Ala
107
Cys
|
details |
homologous mutations |
1 |
9 |
10 |
N |
N |
? |
TMD1,EL1 |
p.Ser
108
Phe
|
details |
homologous mutations |
5 |
19 |
19 |
N |
N |
|
TMD1,EL1 |
p.Ser
108
Cys
|
details |
homologous mutations |
1 |
1 |
1 |
N |
D |
? |
TMD1,EL1 |
p.Tyr
109
Cys
|
details |
homologous mutations |
7 |
16 |
18 |
D |
D |
D |
TMD1,EL1 |
p.Tyr
109
Asn
|
details |
homologous mutations |
2 |
2 |
3 |
D |
D |
|
TMD1,EL1 |
p.Tyr
109
*
|
details |
homologous mutations |
1 |
3 |
3 |
- |
- |
|
TMD1,EL1 |
p.Asp
110
Tyr
|
details |
homologous mutations |
3 |
4 |
4 |
D |
N |
|
TMD1,EL1 |
p.Asp
110
His
|
details |
homologous mutations |
46 |
92 |
106 |
D |
N |
D |
TMD1,EL1 |
p.Asp
110
Glu
|
details |
homologous mutations |
10 |
25 |
27 |
D |
N |
|
TMD1,EL1 |
p.Asp
110
Asn
|
details |
homologous mutations |
1 |
1 |
1 |
D |
N |
D |
TMD1,EL1 |
p.Asp
110
Cys
|
details |
homologous mutations |
2 |
51 |
55 |
D |
D |
D |
TMD1,EL1 |
p.Asp
110
Arg
|
details |
homologous mutations |
1 |
36 |
44 |
D |
N |
D |
TMD1,EL1 |
p.Pro
111
Leu
|
details |
homologous mutations |
5 |
15 |
16 |
N |
D |
|
TMD1,EL1 |
p.Pro
111
Ala
|
details |
homologous mutations |
3 |
6 |
6 |
D |
N |
|
TMD1,EL1 |
p.Asp
112
Gly
|
details |
homologous mutations |
1 |
2 |
2 |
N |
N |
? |
TMD1,EL1 |
p.Asp
112
Arg
|
details |
homologous mutations |
1 |
4 |
4 |
N |
N |
? |
TMD1,EL1 |
p.Lys
114
Glu
|
details |
homologous mutations |
1 |
2 |
2 |
N |
N |
? |
TMD1,EL1 |
p.Lys
114
Cys
|
details |
homologous mutations |
3 |
3 |
3 |
D |
N |
? |
TMD1,EL1 |
p.Lys
114
Asp
|
details |
homologous mutations |
1 |
9 |
9 |
N |
N |
? |
TMD1,EL1 |
p.Glu
115
Lys
|
details |
homologous mutations |
1 |
20 |
32 |
N |
N |
? |
TMD1,EL1 |
p.Glu
115
Ser
|
details |
homologous mutations |
1 |
2 |
2 |
N |
N |
? |
TMD1,EL1 |
p.Glu
115
Arg
|
details |
homologous mutations |
1 |
4 |
4 |
N |
N |
? |
TMD1,EL1 |
p.Glu
116
Lys
|
details |
homologous mutations |
7 |
39 |
71 |
N |
N |
|
TMD1,EL1 |
p.Glu
116
*
|
details |
homologous mutations |
1 |
1 |
1 |
- |
- |
? |
TMD1,EL1 |
p.Glu
116
Arg
|
details |
homologous mutations |
1 |
41 |
49 |
N |
N |
? |
TMD1,EL1 |
p.Glu
116
Cys
|
details |
homologous mutations |
1 |
30 |
31 |
D |
D |
? |
TMD1,EL1 |
p.Glu
116
Asp
|
details |
homologous mutations |
1 |
8 |
8 |
N |
N |
? |
TMD1,EL1 |
p.Arg
117
His
|
details |
homologous mutations |
740 |
2973 |
3844 |
N |
N |
D |
TMD1,EL1 |
p.Arg
117
Leu
|
details |
homologous mutations |
18 |
50 |
54 |
D |
N |
|
TMD1,EL1 |
p.Arg
117
Cys
|
details |
homologous mutations |
82 |
180 |
213 |
D |
D |
D |
TMD1,EL1 |
p.Arg
117
Pro
|
details |
homologous mutations |
10 |
18 |
19 |
D |
N |
|
TMD1,EL1 |
p.Arg
117
Glu
|
details |
homologous mutations |
2 |
26 |
33 |
D |
N |
D |
TMD1,EL1 |
p.Arg
117
Gln
|
details |
homologous mutations |
3 |
16 |
17 |
D |
N |
D |
TMD1,EL1 |
p.Arg
117
Gly
|
details |
homologous mutations |
3 |
4 |
5 |
D |
N |
|
TMD1,EL1 |
p.Arg
117
Met
|
details |
homologous mutations |
1 |
1 |
1 |
D |
N |
D |
TMD1,EL1 |
p.Arg
117
Thr
|
details |
homologous mutations |
1 |
2 |
2 |
D |
N |
D |
TMD1,EL1 |
p.Arg
117
Ala
|
details |
homologous mutations |
1 |
30 |
30 |
D |
N |
D |
TMD1,EL1 |
p.Arg
117
Lys
|
details |
homologous mutations |
1 |
8 |
8 |
D |
N |
D |
TMD1,EL1 |
p.Ser
118
Pro
|
details |
homologous mutations |
2 |
16 |
16 |
D |
N |
? |
TMD1,TH2 |
p.Ala
120
Thr
|
details |
homologous mutations |
22 |
47 |
51 |
N |
N |
|
TMD1,TH2 |
p.Tyr
122
*
|
details |
homologous mutations |
75 |
247 |
305 |
- |
- |
D |
TMD1,TH2 |
p.Tyr
122
Lys
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
TMD1,TH2 |
p.Tyr
122
His
|
details |
homologous mutations |
2 |
11 |
12 |
D |
N |
|
TMD1,TH2 |
p.Tyr
122
Cys
|
details |
homologous mutations |
1 |
1 |
2 |
N |
D |
? |
TMD1,TH2 |
p.Ile
125
Thr
|
details |
homologous mutations |
8 |
30 |
33 |
N |
N |
|
TMD1,TH2 |
p.Gly
126
Asp
|
details |
homologous mutations |
6 |
24 |
48 |
D |
D |
? |
TMD1,TH2 |
p.Gly
126
Ser
|
details |
homologous mutations |
3 |
21 |
21 |
N |
N |
|
TMD1,TH2 |
p.Gly
126
Cys
|
details |
homologous mutations |
1 |
5 |
5 |
D |
D |
? |
TMD1,TH2 |
p.Cys
128
Ser
|
details |
homologous mutations |
2 |
3 |
3 |
N |
N |
? |
TMD1,TH2 |
p.Cys
128
Ala
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
TMD1,TH2 |
p.Ile
132
Met
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
TMD1,TH2 |
p.Arg
134
Gln
|
details |
homologous mutations |
1 |
9 |
11 |
D |
N |
? |
TMD1,TH2 |
p.Arg
134
Glu
|
details |
homologous mutations |
2 |
2 |
2 |
D |
N |
? |
TMD1,TH2 |
p.Leu
136
Pro
|
details |
homologous mutations |
1 |
3 |
3 |
D |
D |
? |
TMD1,TH2 |
p.Leu
137
His
|
details |
homologous mutations |
2 |
2 |
2 |
D |
D |
|
TMD1,TH2 |
p.Leu
137
Pro
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
TMD1,TH2 |
p.Leu
137
Arg
|
details |
homologous mutations |
2 |
2 |
2 |
D |
D |
|
TMD1,TH2 |
p.Leu
138
Pro
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD1,TH2 |
p.His
139
Leu
|
details |
homologous mutations |
5 |
18 |
20 |
D |
D |
|
TMD1,TH2 |
p.His
139
Arg
|
details |
homologous mutations |
10 |
23 |
25 |
N |
D |
|
TMD1,TH2 |
p.His
139
Gln
|
details |
homologous mutations |
3 |
19 |
20 |
D |
D |
? |
TMD1,TH2 |
p.Pro
140
Ser
|
details |
homologous mutations |
1 |
4 |
4 |
N |
N |
|
TMD1,CL1 |
p.Ala
141
Asp
|
details |
homologous mutations |
4 |
8 |
8 |
N |
N |
|
TMD1,CL1 |
p.Ala
141
Gly
|
details |
homologous mutations |
1 |
4 |
4 |
D |
N |
? |
TMD1,CL1 |
p.Ile
148
Thr
|
details |
homologous mutations |
159 |
721 |
967 |
D |
N |
N |
TMD1,CL1 |
p.Ile
148
Asn
|
details |
homologous mutations |
2 |
5 |
5 |
D |
D |
|
TMD1,CL1 |
p.Gly
149
Arg
|
details |
homologous mutations |
17 |
76 |
91 |
D |
D |
|
TMD1,CL1 |
p.Gly
149
*
|
details |
homologous mutations |
1 |
9 |
10 |
- |
- |
? |
TMD1,CL1 |
p.Gly
149
Trp
|
details |
homologous mutations |
1 |
7 |
8 |
D |
D |
? |
TMD1,CL1 |
p.Met
150
Lys
|
details |
homologous mutations |
1 |
4 |
5 |
D |
D |
? |
TMD1,CL1 |
p.Met
150
Val
|
details |
homologous mutations |
2 |
8 |
15 |
N |
D |
? |
TMD1,CL1 |
p.Gln
151
*
|
details |
homologous mutations |
3 |
5 |
5 |
- |
- |
? |
TMD1,CL1 |
p.Gln
151
Lys
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
|
TMD1,CL1 |
p.Met
152
Val
|
details |
homologous mutations |
4 |
9 |
15 |
N |
N |
|
TMD1,CL1 |
p.Met
152
Arg
|
details |
homologous mutations |
4 |
4 |
4 |
D |
D |
|
TMD1,CL1 |
p.Arg
153
Ile
|
details |
homologous mutations |
1 |
5 |
6 |
D |
D |
? |
TMD1,CL1 |
p.Arg
153
Cys
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD1,CL1 |
p.Met
156
Val
|
details |
homologous mutations |
1 |
4 |
9 |
N |
N |
? |
TMD1,CL1 |
p.Met
156
Asn
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD1,CL1 |
p.Phe
157
Cys
|
details |
homologous mutations |
3 |
19 |
19 |
N |
N |
? |
TMD1,CL1 |
p.Ser
158
Asn
|
details |
homologous mutations |
3 |
18 |
19 |
N |
N |
? |
TMD1,CL1 |
p.Ser
158
Thr
|
details |
homologous mutations |
2 |
6 |
6 |
N |
N |
|
TMD1,CL1 |
p.Leu
159
Ser
|
details |
homologous mutations |
2 |
2 |
3 |
D |
N |
|
TMD1,CL1 |
p.Tyr
161
Asp
|
details |
homologous mutations |
2 |
5 |
6 |
D |
D |
|
TMD1,CL1 |
p.Tyr
161
Cys
|
details |
homologous mutations |
2 |
4 |
4 |
D |
D |
|
TMD1,CL1 |
p.Tyr
161
Asn
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
|
TMD1,CL1 |
p.Thr
164
Ile
|
details |
homologous mutations |
3 |
13 |
14 |
N |
N |
? |
TMD1,CL1 |
p.Thr
164
Ser
|
details |
homologous mutations |
2 |
4 |
4 |
N |
N |
? |
TMD1,CL1 |
p.Leu
165
Ser
|
details |
homologous mutations |
5 |
7 |
9 |
D |
D |
|
TMD1,CL1 |
p.Leu
165
*
|
details |
homologous mutations |
1 |
2 |
2 |
- |
- |
? |
TMD1,CL1 |
p.Lys
166
Glu
|
details |
homologous mutations |
4 |
11 |
12 |
D |
N |
|
TMD1,CL1 |
p.Leu
167
Arg
|
details |
homologous mutations |
1 |
27 |
37 |
D |
D |
|
TMD1,CL1 |
p.Arg
170
His
|
details |
homologous mutations |
18 |
30 |
31 |
N |
N |
|
TMD1,CL1 |
p.Arg
170
Cys
|
details |
homologous mutations |
8 |
19 |
19 |
D |
D |
? |
TMD1,CL1 |
p.Arg
170
Leu
|
details |
homologous mutations |
2 |
5 |
5 |
D |
D |
? |
TMD1,CL1 |
p.Val
171
Cys
|
details |
homologous mutations |
1 |
8 |
10 |
N |
N |
? |
TMD1,CL1 |
p.Leu
172
Cys
|
details |
homologous mutations |
1 |
5 |
5 |
N |
N |
? |
TMD1,CL1 |
p.Ile
175
Val
|
details |
homologous mutations |
7 |
17 |
17 |
N |
N |
|
TMD1,CL1 |
p.Ile
177
Phe
|
details |
homologous mutations |
1 |
1 |
1 |
D |
N |
? |
TMD1,CL1 |
p.Gly
178
Arg
|
details |
homologous mutations |
50 |
114 |
132 |
D |
D |
D |
TMD1,CL1 |
p.Gly
178
Glu
|
details |
homologous mutations |
2 |
2 |
2 |
D |
D |
|
TMD1,CL1 |
p.Gln
179
Lys
|
details |
homologous mutations |
7 |
16 |
18 |
D |
N |
|
TMD1,CL1 |
p.Ser
182
Gly
|
details |
homologous mutations |
1 |
1 |
1 |
D |
N |
? |
TMD1,CL1 |
p.Leu
183
Ile
|
details |
homologous mutations |
3 |
14 |
15 |
D |
N |
|
TMD1,CL1 |
p.Asn
186
Lys
|
details |
homologous mutations |
1 |
1 |
1 |
D |
N |
|
TMD1,CL1 |
p.Asn
187
Lys
|
details |
homologous mutations |
2 |
4 |
4 |
D |
D |
? |
TMD1,CL1 |
p.Leu
188
Pro
|
details |
homologous mutations |
1 |
1 |
2 |
D |
D |
? |
TMD1,CL1 |
p.Asn
189
Lys
|
details |
homologous mutations |
1 |
1 |
1 |
D |
N |
|
TMD1,CL1 |
p.Lys
190
Cys
|
details |
homologous mutations |
5 |
42 |
42 |
D |
D |
? |
TMD1,CL1 |
p.Lys
190
Glu
|
details |
homologous mutations |
1 |
1 |
1 |
D |
N |
? |
TMD1,CL1 |
p.Phe
191
Leu
|
details |
homologous mutations |
1 |
2 |
2 |
N |
N |
? |
TMD1,CL1 |
p.Asp
192
Gly
|
details |
homologous mutations |
9 |
20 |
24 |
D |
N |
|
TMD1,CL1 |
p.Asp
192
Asn
|
details |
homologous mutations |
4 |
5 |
6 |
D |
N |
|
TMD1,CL1 |
p.Asp
192
Cys
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD1,CL1 |
p.Glu
193
Lys
|
details |
homologous mutations |
21 |
77 |
84 |
N |
N |
|
TMD1,CL1 |
p.Glu
193
Cys
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
D |
TMD1,CL1 |
p.Glu
193
*
|
details |
homologous mutations |
3 |
4 |
4 |
- |
- |
D |
TMD1,CL1 |
p.Gly
194
Val
|
details |
homologous mutations |
2 |
2 |
2 |
D |
N |
|
TMD1,CL1 |
p.Gly
194
Arg
|
details |
homologous mutations |
2 |
5 |
5 |
D |
N |
? |
TMD1,CL1 |
p.Gly
194
Thr
|
details |
homologous mutations |
1 |
1 |
1 |
D |
N |
? |
TMD1,CL1 |
p.Leu
197
Cys
|
details |
homologous mutations |
1 |
1 |
1 |
D |
N |
? |
TMD1,TH3 |
p.Ala
198
Pro
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
|
TMD1,TH3 |
p.Ala
198
Cys
|
details |
homologous mutations |
1 |
1 |
1 |
D |
N |
D |
TMD1,TH3 |
p.His
199
Tyr
|
details |
homologous mutations |
27 |
38 |
40 |
D |
D |
D |
TMD1,TH3 |
p.His
199
Arg
|
details |
homologous mutations |
7 |
12 |
14 |
D |
D |
|
TMD1,TH3 |
p.His
199
Gln
|
details |
homologous mutations |
2 |
2 |
2 |
D |
D |
|
TMD1,TH3 |
p.His
199
Cys
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
D |
TMD1,TH3 |
p.Phe
200
Ile
|
details |
homologous mutations |
1 |
1 |
1 |
D |
N |
|
TMD1,TH3 |
p.Phe
200
Cys
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD1,TH3 |
p.Val
201
Met
|
details |
homologous mutations |
11 |
30 |
30 |
D |
N |
|
TMD1,TH3 |
p.Trp
202
*
|
details |
homologous mutations |
3 |
5 |
6 |
- |
- |
|
TMD1,TH3 |
p.Trp
202
Cys
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD1,TH3 |
p.Ile
203
Met
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
|
TMD1,TH3 |
p.Ile
203
Cys
|
details |
homologous mutations |
1 |
2 |
2 |
D |
N |
? |
TMD1,TH3 |
p.Ala
204
Thr
|
details |
homologous mutations |
1 |
26 |
32 |
N |
N |
? |
TMD1,TH3 |
p.Ala
204
Leu
|
details |
homologous mutations |
2 |
6 |
6 |
D |
D |
? |
TMD1,TH3 |
p.Pro
205
Ser
|
details |
homologous mutations |
55 |
158 |
171 |
N |
D |
D |
TMD1,TH3 |
p.Pro
205
Ala
|
details |
homologous mutations |
3 |
13 |
13 |
D |
D |
D |
TMD1,TH3 |
p.Pro
205
Leu
|
details |
homologous mutations |
1 |
9 |
9 |
D |
D |
D |
TMD1,TH3 |
p.Pro
205
Gly
|
details |
homologous mutations |
2 |
7 |
7 |
D |
D |
D |
TMD1,TH3 |
p.Pro
205
Cys
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
D |
TMD1,TH3 |
p.Leu
206
Trp
|
details |
homologous mutations |
101 |
336 |
416 |
D |
D |
D |
TMD1,TH3 |
p.Leu
206
Phe
|
details |
homologous mutations |
3 |
4 |
4 |
D |
N |
|
TMD1,TH3 |
p.Leu
206
Val
|
details |
homologous mutations |
1 |
1 |
1 |
D |
N |
? |
TMD1,TH3 |
p.Leu
206
Tyr
|
details |
homologous mutations |
1 |
2 |
2 |
D |
N |
? |
TMD1,TH3 |
p.Leu
206
Arg
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD1,TH3 |
p.Leu
206
Glu
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD1,TH3 |
p.Gln
207
Leu
|
details |
homologous mutations |
4 |
19 |
21 |
D |
D |
? |
TMD1,TH3 |
p.Gln
207
Cys
|
details |
homologous mutations |
2 |
10 |
11 |
D |
D |
? |
TMD1,TH3 |
p.Gln
207
*
|
details |
homologous mutations |
2 |
8 |
9 |
- |
- |
|
TMD1,TH3 |
p.Gln
207
Asn
|
details |
homologous mutations |
2 |
38 |
42 |
D |
D |
? |
TMD1,TH3 |
p.Gln
207
Ala
|
details |
homologous mutations |
1 |
10 |
10 |
D |
D |
? |
TMD1,TH3 |
p.Gln
207
Asp
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD1,TH3 |
p.Gln
207
Trp
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
TMD1,TH3 |
p.Gln
207
Phe
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
TMD1,TH3 |
p.Gln
207
Ser
|
details |
homologous mutations |
1 |
3 |
3 |
D |
D |
? |
TMD1,TH3 |
p.Gln
207
Glu
|
details |
homologous mutations |
1 |
4 |
4 |
D |
N |
? |
TMD1,TH3 |
p.Ala
209
Ser
|
details |
homologous mutations |
3 |
4 |
4 |
D |
N |
|
TMD1,TH3 |
p.Leu
210
Ala
|
details |
homologous mutations |
1 |
1 |
1 |
N |
D |
? |
TMD1,TH3 |
p.Leu
211
Cys
|
details |
homologous mutations |
1 |
3 |
3 |
N |
N |
? |
TMD1,TH3 |
p.Met
212
Ala
|
details |
homologous mutations |
1 |
2 |
2 |
N |
D |
? |
TMD1,TH3 |
p.Gly
213
Ala
|
details |
homologous mutations |
1 |
1 |
1 |
D |
N |
? |
TMD1,TH3 |
p.Gly
213
Glu
|
details |
homologous mutations |
1 |
2 |
2 |
D |
N |
? |
TMD1,TH3 |
p.Leu
214
Cys
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD1,TH3 |
p.Trp
216
*
|
details |
homologous mutations |
6 |
11 |
12 |
- |
- |
|
TMD1,TH3 |
p.Trp
216
Cys
|
details |
homologous mutations |
1 |
4 |
4 |
D |
D |
|
TMD1,TH3 |
p.Glu
217
Arg
|
details |
homologous mutations |
1 |
6 |
7 |
D |
N |
? |
TMD1,TH3 |
p.Glu
217
Gly
|
details |
homologous mutations |
31 |
130 |
146 |
N |
N |
D |
TMD1,TH3 |
p.Glu
217
Ser
|
details |
homologous mutations |
2 |
17 |
19 |
N |
N |
? |
TMD1,TH3 |
p.Glu
217
Val
|
details |
homologous mutations |
2 |
11 |
11 |
D |
D |
? |
TMD1,TH3 |
p.Glu
217
Phe
|
details |
homologous mutations |
2 |
9 |
9 |
D |
D |
? |
TMD1,TH3 |
p.Glu
217
Cys
|
details |
homologous mutations |
2 |
14 |
16 |
D |
D |
? |
TMD1,TH3 |
p.Leu
218
*
|
details |
homologous mutations |
5 |
10 |
11 |
- |
- |
|
TMD1,EL2 |
p.Gln
220
Lys
|
details |
homologous mutations |
2 |
11 |
12 |
D |
N |
D |
TMD1,EL2 |
p.Gln
220
*
|
details |
homologous mutations |
26 |
50 |
53 |
- |
- |
D |
TMD1,EL2 |
p.Gln
220
Ala
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
D |
TMD1,EL2 |
p.Gln
220
Arg
|
details |
homologous mutations |
2 |
13 |
13 |
D |
N |
|
TMD1,EL2 |
p.Gln
220
Asn
|
details |
homologous mutations |
1 |
6 |
6 |
N |
N |
D |
TMD1,EL2 |
p.Gln
220
Gly
|
details |
homologous mutations |
1 |
5 |
5 |
N |
N |
D |
TMD1,EL2 |
p.Gln
220
Glu
|
details |
homologous mutations |
1 |
6 |
7 |
N |
N |
D |
TMD1,EL2 |
p.Gln
220
Trp
|
details |
homologous mutations |
2 |
11 |
11 |
D |
N |
D |
TMD1,TH4 |
p.Ala
221
Asp
|
details |
homologous mutations |
1 |
2 |
2 |
D |
N |
? |
TMD1,TH4 |
p.Ser
222
Ala
|
details |
homologous mutations |
2 |
3 |
3 |
N |
N |
? |
TMD1,TH4 |
p.Ser
222
Glu
|
details |
homologous mutations |
2 |
14 |
15 |
D |
D |
? |
TMD1,TH4 |
p.Ser
222
Gly
|
details |
homologous mutations |
1 |
5 |
8 |
D |
D |
? |
TMD1,TH4 |
p.Ser
222
Asp
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD1,TH4 |
p.Ala
223
Asp
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD1,TH4 |
p.Phe
224
Ala
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD1,TH4 |
p.Phe
224
Asp
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
TMD1,TH4 |
p.Cys
225
Arg
|
details |
homologous mutations |
7 |
32 |
37 |
D |
D |
|
TMD1,TH4 |
p.Cys
225
Ala
|
details |
homologous mutations |
4 |
5 |
5 |
D |
N |
? |
TMD1,TH4 |
p.Cys
225
Ser
|
details |
homologous mutations |
5 |
7 |
7 |
D |
D |
? |
TMD1,TH4 |
p.Cys
225
*
|
details |
homologous mutations |
3 |
3 |
4 |
- |
- |
|
TMD1,TH4 |
p.Gly
226
Ala
|
details |
homologous mutations |
1 |
1 |
1 |
N |
D |
? |
TMD1,TH4 |
p.Gly
226
Asp
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
TMD1,TH4 |
p.Leu
227
Arg
|
details |
homologous mutations |
9 |
11 |
12 |
D |
D |
|
TMD1,TH4 |
p.Gly
228
Leu
|
details |
homologous mutations |
1 |
2 |
2 |
D |
N |
? |
TMD1,TH4 |
p.Gly
228
Asp
|
details |
homologous mutations |
1 |
3 |
3 |
D |
N |
? |
TMD1,TH4 |
p.Phe
229
Ala
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
TMD1,TH4 |
p.Phe
229
Arg
|
details |
homologous mutations |
1 |
2 |
2 |
D |
N |
? |
TMD1,TH4 |
p.Leu
230
Asp
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
TMD1,TH4 |
p.Ile
231
Asp
|
details |
homologous mutations |
4 |
51 |
61 |
D |
D |
? |
TMD1,TH4 |
p.Val
232
Asp
|
details |
homologous mutations |
43 |
343 |
413 |
D |
D |
|
TMD1,TH4 |
p.Val
232
Lys
|
details |
homologous mutations |
2 |
15 |
15 |
D |
D |
? |
TMD1,TH4 |
p.Val
232
Ala
|
details |
homologous mutations |
1 |
2 |
2 |
N |
N |
? |
TMD1,TH4 |
p.Val
232
Glu
|
details |
homologous mutations |
2 |
48 |
53 |
D |
D |
? |
TMD1,TH4 |
p.Val
232
Asn
|
details |
homologous mutations |
1 |
9 |
11 |
D |
D |
? |
TMD1,TH4 |
p.Val
232
Gln
|
details |
homologous mutations |
1 |
6 |
7 |
D |
D |
? |
TMD1,TH4 |
p.Val
232
Arg
|
details |
homologous mutations |
1 |
11 |
11 |
D |
D |
? |
TMD1,TH4 |
p.Val
232
*
|
details |
homologous mutations |
1 |
1 |
1 |
- |
- |
? |
TMD1,TH4 |
p.Leu
233
Asp
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD1,TH4 |
p.Ala
234
Asp
|
details |
homologous mutations |
1 |
1 |
1 |
D |
N |
? |
TMD1,TH4 |
p.Phe
236
Asp
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD1,TH4 |
p.Phe
236
Arg
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
TMD1,TH4 |
p.Gln
237
Ala
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD1,TH4 |
p.Gln
237
Glu
|
details |
homologous mutations |
2 |
2 |
2 |
D |
N |
|
TMD1,TH4 |
p.Gln
237
Leu
|
details |
homologous mutations |
2 |
9 |
15 |
D |
D |
? |
TMD1,TH4 |
p.Gln
237
Asp
|
details |
homologous mutations |
1 |
1 |
1 |
D |
N |
? |
TMD1,TH4 |
p.Ala
238
Val
|
details |
homologous mutations |
1 |
3 |
3 |
D |
D |
|
TMD1,TH4 |
p.Ala
238
Asp
|
details |
homologous mutations |
1 |
3 |
3 |
D |
D |
? |
TMD1,TH4 |
p.Gly
239
Asp
|
details |
homologous mutations |
1 |
3 |
3 |
D |
N |
? |
TMD1,TH4 |
p.Gly
239
Arg
|
details |
homologous mutations |
1 |
2 |
2 |
N |
N |
|
TMD1,CL2 |
p.Gly
241
Arg
|
details |
homologous mutations |
3 |
3 |
3 |
D |
N |
|
TMD1,CL2 |
p.Gly
241
Asp
|
details |
homologous mutations |
2 |
6 |
6 |
D |
N |
? |
TMD1,CL2 |
p.Arg
242
Glu
|
details |
homologous mutations |
2 |
8 |
9 |
D |
N |
? |
TMD1,CL2 |
p.Met
244
Lys
|
details |
homologous mutations |
2 |
7 |
7 |
D |
D |
|
TMD1,CL2 |
p.Lys
246
Asn
|
details |
homologous mutations |
1 |
5 |
6 |
N |
N |
? |
TMD1,CL2 |
p.Arg
248
Glu
|
details |
homologous mutations |
1 |
5 |
6 |
D |
N |
? |
TMD1,CL2 |
p.Arg
248
Thr
|
details |
homologous mutations |
2 |
5 |
5 |
D |
D |
|
TMD1,CL2 |
p.Arg
248
Cys
|
details |
homologous mutations |
1 |
12 |
12 |
D |
D |
? |
TMD1,CL2 |
p.Asp
249
Tyr
|
details |
homologous mutations |
1 |
3 |
3 |
D |
N |
? |
TMD1,CL2 |
p.Gln
250
Arg
|
details |
homologous mutations |
1 |
2 |
2 |
N |
N |
? |
TMD1,CL2 |
p.Arg
251
Glu
|
details |
homologous mutations |
1 |
2 |
2 |
D |
N |
? |
TMD1,CL2 |
p.Arg
251
Cys
|
details |
homologous mutations |
1 |
6 |
6 |
D |
D |
? |
TMD1,CL2 |
p.Lys
254
Cys
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
TMD1,CL2 |
p.Glu
257
*
|
details |
homologous mutations |
1 |
4 |
5 |
- |
- |
? |
TMD1,CL2 |
p.Arg
258
Gly
|
details |
homologous mutations |
19 |
42 |
45 |
D |
D |
|
TMD1,CL2 |
p.Ser
263
His
|
details |
homologous mutations |
1 |
9 |
18 |
D |
D |
? |
TMD1,CL2 |
p.Glu
264
Val
|
details |
homologous mutations |
6 |
12 |
16 |
D |
D |
? |
TMD1,CL2 |
p.Met
265
Val
|
details |
homologous mutations |
4 |
37 |
42 |
N |
N |
? |
TMD1,CL2 |
p.Met
265
Arg
|
details |
homologous mutations |
2 |
5 |
5 |
D |
D |
|
TMD1,CL2 |
p.Glu
267
Lys
|
details |
homologous mutations |
2 |
8 |
8 |
D |
N |
? |
TMD1,CL2 |
p.Glu
267
Ala
|
details |
homologous mutations |
2 |
7 |
9 |
N |
N |
? |
TMD1,CL2 |
p.Glu
267
Arg
|
details |
homologous mutations |
2 |
47 |
54 |
D |
N |
? |
TMD1,CL2 |
p.Glu
267
Cys
|
details |
homologous mutations |
1 |
9 |
9 |
D |
D |
? |
TMD1,CL2 |
p.Glu
267
Gly
|
details |
homologous mutations |
1 |
1 |
1 |
D |
N |
? |
TMD1,CL2 |
p.Asn
268
Cys
|
details |
homologous mutations |
1 |
6 |
6 |
D |
D |
? |
TMD1,CL2 |
p.Ala
274
Cys
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
TMD1,CL2 |
p.Tyr
275
*
|
details |
homologous mutations |
2 |
8 |
8 |
- |
- |
D |
TMD1,CL2 |
p.Tyr
275
Ser
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD1,CL2 |
p.Tyr
275
Phe
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD1,CL2 |
p.Tyr
275
Glu
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD1,CL2 |
p.Tyr
275
Leu
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
TMD1,CL2 |
p.Tyr
275
Lys
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD1,CL2 |
p.Cys
276
*
|
details |
homologous mutations |
5 |
6 |
6 |
- |
- |
D |
TMD1,CL2 |
p.Cys
276
Ser
|
details |
homologous mutations |
5 |
7 |
7 |
N |
N |
? |
TMD1,CL2 |
p.Trp
277
Arg
|
details |
homologous mutations |
1 |
11 |
12 |
D |
D |
|
TMD1,CL2 |
p.Glu
279
*
|
details |
homologous mutations |
1 |
1 |
1 |
- |
- |
? |
TMD1,CL2 |
p.Glu
279
Asp
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
TMD1,CL2 |
p.Met
281
Thr
|
details |
homologous mutations |
2 |
3 |
3 |
D |
D |
|
TMD1,CL2 |
p.Met
281
Arg
|
details |
homologous mutations |
1 |
5 |
5 |
D |
D |
? |
TMD1,CL2 |
p.Met
284
Thr
|
details |
homologous mutations |
1 |
1 |
2 |
N |
N |
? |
TMD1,CL2 |
p.Ile
285
Phe
|
details |
homologous mutations |
2 |
4 |
4 |
N |
D |
D |
TMD1,CL2 |
p.Asn
287
Tyr
|
details |
homologous mutations |
12 |
98 |
118 |
N |
N |
|
TMD1,CL2 |
p.Asn
287
Lys
|
details |
homologous mutations |
2 |
10 |
10 |
N |
N |
|
TMD1,CL2 |
p.Gln
290
*
|
details |
homologous mutations |
1 |
1 |
1 |
- |
- |
|
TMD1,CL2 |
p.Glu
292
Lys
|
details |
homologous mutations |
3 |
5 |
6 |
D |
D |
|
TMD1,CL2 |
p.Glu
292
*
|
details |
homologous mutations |
1 |
1 |
1 |
- |
- |
? |
TMD1,CL2 |
p.Lys
294
Cys
|
details |
homologous mutations |
1 |
1 |
1 |
N |
D |
? |
TMD1,CL2 |
p.Leu
295
Gln
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
TMD1,CL2 |
p.Arg
297
Gln
|
details |
homologous mutations |
27 |
78 |
95 |
D |
N |
N |
TMD1,CL2 |
p.Arg
297
Trp
|
details |
homologous mutations |
2 |
6 |
7 |
D |
D |
|
TMD1,CL2 |
p.Arg
297
Cys
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD1,CL2 |
p.Lys
298
Cys
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD1,CL2 |
p.Ala
299
Thr
|
details |
homologous mutations |
1 |
2 |
2 |
N |
N |
? |
TMD1,CL2 |
p.Tyr
301
Cys
|
details |
homologous mutations |
6 |
10 |
10 |
D |
D |
|
TMD1,CL2 |
p.Val
302
Cys
|
details |
homologous mutations |
1 |
3 |
4 |
N |
N |
? |
TMD1,CL2 |
p.Arg
303
Glu
|
details |
homologous mutations |
2 |
17 |
18 |
D |
N |
? |
TMD1,CL2 |
p.Arg
303
Gln
|
details |
homologous mutations |
6 |
54 |
58 |
D |
N |
? |
TMD1,CL2 |
p.Arg
303
Lys
|
details |
homologous mutations |
3 |
3 |
3 |
D |
N |
? |
TMD1,CL2 |
p.Arg
303
Cys
|
details |
homologous mutations |
3 |
22 |
23 |
D |
D |
? |
TMD1,TH5 |
p.Tyr
304
*
|
details |
homologous mutations |
1 |
1 |
1 |
- |
- |
|
TMD1,TH5 |
p.Phe
305
Val
|
details |
homologous mutations |
1 |
3 |
3 |
D |
N |
|
TMD1,TH5 |
p.Ser
307
Asn
|
details |
homologous mutations |
2 |
7 |
7 |
N |
N |
|
TMD1,TH5 |
p.Ala
309
Gly
|
details |
homologous mutations |
3 |
5 |
5 |
D |
N |
|
TMD1,TH5 |
p.Ala
309
Asp
|
details |
homologous mutations |
1 |
5 |
5 |
D |
N |
? |
TMD1,TH5 |
p.Ala
309
Ser
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
TMD1,TH5 |
p.Phe
310
Arg
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
TMD1,TH5 |
p.Phe
311
Leu
|
details |
homologous mutations |
13 |
20 |
23 |
D |
N |
D |
TMD1,TH5 |
p.Phe
312
Arg
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
TMD1,TH5 |
p.Gly
314
Glu
|
details |
homologous mutations |
22 |
64 |
70 |
D |
N |
|
TMD1,TH5 |
p.Gly
314
Ala
|
details |
homologous mutations |
4 |
16 |
20 |
D |
N |
? |
TMD1,TH5 |
p.Gly
314
Arg
|
details |
homologous mutations |
5 |
23 |
26 |
D |
N |
|
TMD1,TH5 |
p.Gly
314
Gln
|
details |
homologous mutations |
2 |
19 |
24 |
D |
N |
? |
TMD1,TH5 |
p.Gly
314
Asp
|
details |
homologous mutations |
2 |
18 |
22 |
D |
N |
? |
TMD1,TH5 |
p.Gly
314
Val
|
details |
homologous mutations |
1 |
2 |
2 |
D |
N |
|
TMD1,TH5 |
p.Phe
315
Ser
|
details |
homologous mutations |
1 |
4 |
4 |
D |
N |
? |
TMD1,TH5 |
p.Phe
316
Leu
|
details |
homologous mutations |
2 |
2 |
2 |
N |
N |
? |
TMD1,TH5 |
p.Val
317
Ala
|
details |
homologous mutations |
2 |
7 |
7 |
N |
N |
? |
TMD1,TH5 |
p.Val
317
Glu
|
details |
homologous mutations |
2 |
78 |
89 |
D |
D |
? |
TMD1,TH5 |
p.Val
317
Gln
|
details |
homologous mutations |
1 |
15 |
16 |
D |
D |
? |
TMD1,TH5 |
p.Val
318
Ala
|
details |
homologous mutations |
1 |
2 |
2 |
N |
N |
? |
TMD1,TH5 |
p.Phe
319
Val
|
details |
homologous mutations |
1 |
3 |
3 |
N |
N |
? |
TMD1,TH5 |
p.Leu
320
Phe
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
|
TMD1,TH5 |
p.Leu
320
Val
|
details |
homologous mutations |
7 |
12 |
15 |
N |
N |
D |
TMD1,TH5 |
p.Ser
321
Ala
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
TMD1,TH5 |
p.Val
322
Ala
|
details |
homologous mutations |
3 |
7 |
7 |
D |
N |
? |
TMD1,TH5 |
p.Val
322
Met
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
|
TMD1,TH5 |
p.Leu
323
Pro
|
details |
homologous mutations |
1 |
5 |
8 |
D |
N |
? |
TMD1,EL3 |
p.Pro
324
Ala
|
details |
homologous mutations |
1 |
4 |
4 |
N |
N |
? |
TMD1,EL3 |
p.Pro
324
Gly
|
details |
homologous mutations |
1 |
4 |
4 |
N |
D |
? |
TMD1,EL3 |
p.Tyr
325
Cys
|
details |
homologous mutations |
2 |
4 |
4 |
D |
D |
? |
TMD1,EL3 |
p.Ala
326
Cys
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
TMD1,EL3 |
p.Leu
327
Arg
|
details |
homologous mutations |
4 |
7 |
8 |
D |
D |
? |
TMD1,EL3 |
p.Leu
327
Cys
|
details |
homologous mutations |
1 |
1 |
1 |
N |
D |
? |
TMD1,EL3 |
p.Ile
328
Cys
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
TMD1,EL3 |
p.Lys
329
Ala
|
details |
homologous mutations |
4 |
10 |
10 |
N |
N |
? |
TMD1,EL3 |
p.Lys
329
Cys
|
details |
homologous mutations |
2 |
5 |
5 |
D |
N |
? |
TMD1,EL3 |
p.Lys
329
Glu
|
details |
homologous mutations |
1 |
2 |
2 |
D |
N |
? |
TMD1,EL3 |
p.Gly
330
*
|
details |
homologous mutations |
17 |
23 |
24 |
- |
- |
D |
TMD1,EL3 |
p.Gly
330
Cys
|
details |
homologous mutations |
2 |
2 |
2 |
D |
D |
D |
TMD1,EL3 |
p.Ile
331
Cys
|
details |
homologous mutations |
5 |
27 |
32 |
D |
D |
? |
TMD1,EL3 |
p.Ile
332
Cys
|
details |
homologous mutations |
2 |
2 |
2 |
N |
N |
? |
TMD1,EL3 |
p.Ile
332
Lys
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
TMD1,EL3 |
p.Leu
333
Ala
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
D |
TMD1,EL3 |
p.Leu
333
Cys
|
details |
homologous mutations |
7 |
48 |
56 |
N |
N |
D |
TMD1,EL3 |
p.Arg
334
Trp
|
details |
homologous mutations |
377 |
869 |
1045 |
D |
D |
D |
TMD1,EL3 |
p.Arg
334
Leu
|
details |
homologous mutations |
10 |
29 |
31 |
D |
N |
|
TMD1,EL3 |
p.Arg
334
Gln
|
details |
homologous mutations |
21 |
99 |
118 |
D |
N |
|
TMD1,EL3 |
p.Arg
334
Cys
|
details |
homologous mutations |
40 |
527 |
605 |
D |
D |
D |
TMD1,EL3 |
p.Arg
334
Ala
|
details |
homologous mutations |
12 |
48 |
57 |
D |
N |
D |
TMD1,EL3 |
p.Arg
334
His
|
details |
homologous mutations |
7 |
54 |
59 |
D |
N |
D |
TMD1,EL3 |
p.Arg
334
Glu
|
details |
homologous mutations |
7 |
38 |
40 |
D |
N |
D |
TMD1,EL3 |
p.Arg
334
Lys
|
details |
homologous mutations |
4 |
30 |
31 |
D |
N |
D |
TMD1,EL3 |
p.Arg
334
Asp
|
details |
homologous mutations |
2 |
17 |
17 |
D |
N |
D |
TMD1,EL3 |
p.Arg
334
*
|
details |
homologous mutations |
2 |
2 |
2 |
- |
- |
D |
TMD1,EL3 |
p.Arg
334
Thr
|
details |
homologous mutations |
1 |
1 |
1 |
D |
N |
D |
TMD1,EL3 |
p.Lys
335
Glu
|
details |
homologous mutations |
37 |
161 |
173 |
D |
N |
? |
TMD1,EL3 |
p.Lys
335
Ile
|
details |
homologous mutations |
1 |
3 |
3 |
D |
N |
? |
TMD1,EL3 |
p.Lys
335
Phe
|
details |
homologous mutations |
4 |
17 |
18 |
D |
D |
? |
TMD1,EL3 |
p.Lys
335
Ala
|
details |
homologous mutations |
16 |
88 |
102 |
D |
N |
? |
TMD1,EL3 |
p.Lys
335
Cys
|
details |
homologous mutations |
12 |
67 |
79 |
D |
D |
? |
TMD1,EL3 |
p.Lys
335
Gln
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
TMD1,EL3 |
p.Lys
335
Asp
|
details |
homologous mutations |
3 |
20 |
25 |
D |
N |
? |
TMD1,EL3 |
p.Lys
335
Arg
|
details |
homologous mutations |
1 |
13 |
17 |
N |
N |
? |
TMD1,EL3 |
p.Lys
335
His
|
details |
homologous mutations |
2 |
12 |
12 |
D |
N |
? |
TMD1,TH6 |
p.Ile
336
Lys
|
details |
homologous mutations |
32 |
86 |
98 |
D |
D |
D |
TMD1,TH6 |
p.Ile
336
Ala
|
details |
homologous mutations |
3 |
10 |
14 |
D |
N |
? |
TMD1,TH6 |
p.Ile
336
Cys
|
details |
homologous mutations |
4 |
8 |
8 |
D |
N |
? |
TMD1,TH6 |
p.Ile
336
Leu
|
details |
homologous mutations |
1 |
3 |
3 |
D |
N |
? |
TMD1,TH6 |
p.Phe
337
Ser
|
details |
homologous mutations |
11 |
207 |
235 |
D |
D |
? |
TMD1,TH6 |
p.Phe
337
Ala
|
details |
homologous mutations |
14 |
161 |
188 |
D |
D |
? |
TMD1,TH6 |
p.Phe
337
Tyr
|
details |
homologous mutations |
3 |
23 |
23 |
D |
N |
? |
TMD1,TH6 |
p.Phe
337
Cys
|
details |
homologous mutations |
13 |
84 |
88 |
D |
D |
? |
TMD1,TH6 |
p.Phe
337
Glu
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD1,TH6 |
p.Phe
337
Leu
|
details |
homologous mutations |
2 |
16 |
16 |
D |
D |
? |
TMD1,TH6 |
p.Phe
337
Trp
|
details |
homologous mutations |
1 |
3 |
3 |
D |
D |
? |
TMD1,TH6 |
p.Phe
337
Arg
|
details |
homologous mutations |
2 |
8 |
9 |
D |
D |
? |
TMD1,TH6 |
p.Thr
338
Ile
|
details |
homologous mutations |
58 |
127 |
154 |
D |
D |
D |
TMD1,TH6 |
p.Thr
338
Ala
|
details |
homologous mutations |
35 |
245 |
271 |
D |
N |
|
TMD1,TH6 |
p.Thr
338
Ser
|
details |
homologous mutations |
5 |
28 |
29 |
D |
N |
? |
TMD1,TH6 |
p.Thr
338
Met
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD1,TH6 |
p.Thr
338
Glu
|
details |
homologous mutations |
1 |
16 |
17 |
D |
D |
? |
TMD1,TH6 |
p.Thr
338
Gln
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD1,TH6 |
p.Thr
338
Cys
|
details |
homologous mutations |
21 |
421 |
554 |
D |
D |
? |
TMD1,TH6 |
p.Thr
338
His
|
details |
homologous mutations |
3 |
18 |
35 |
D |
D |
? |
TMD1,TH6 |
p.Thr
338
Phe
|
details |
homologous mutations |
1 |
4 |
4 |
D |
D |
? |
TMD1,TH6 |
p.Thr
338
Asn
|
details |
homologous mutations |
1 |
15 |
15 |
D |
N |
? |
TMD1,TH6 |
p.Thr
338
Val
|
details |
homologous mutations |
1 |
13 |
13 |
D |
N |
? |
TMD1,TH6 |
p.Thr
338
Lys
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
TMD1,TH6 |
p.Thr
338
Arg
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD1,TH6 |
p.Thr
339
Ala
|
details |
homologous mutations |
6 |
25 |
31 |
N |
N |
? |
TMD1,TH6 |
p.Thr
339
Val
|
details |
homologous mutations |
3 |
29 |
32 |
D |
N |
? |
TMD1,TH6 |
p.Thr
339
Cys
|
details |
homologous mutations |
6 |
9 |
9 |
D |
N |
? |
TMD1,TH6 |
p.Thr
339
Ser
|
details |
homologous mutations |
1 |
3 |
4 |
N |
N |
? |
TMD1,TH6 |
p.Thr
339
Phe
|
details |
homologous mutations |
1 |
2 |
3 |
D |
N |
? |
TMD1,TH6 |
p.Thr
339
Tyr
|
details |
homologous mutations |
1 |
2 |
3 |
D |
D |
? |
TMD1,TH6 |
p.Ile
340
Ala
|
details |
homologous mutations |
2 |
10 |
14 |
N |
N |
? |
TMD1,TH6 |
p.Ile
340
Cys
|
details |
homologous mutations |
3 |
3 |
4 |
N |
D |
? |
TMD1,TH6 |
p.Ile
340
Asn
|
details |
homologous mutations |
1 |
6 |
6 |
D |
D |
? |
TMD1,TH6 |
p.Ser
341
Ala
|
details |
homologous mutations |
24 |
169 |
184 |
D |
N |
D |
TMD1,TH6 |
p.Ser
341
Thr
|
details |
homologous mutations |
2 |
13 |
13 |
D |
N |
D |
TMD1,TH6 |
p.Ser
341
Glu
|
details |
homologous mutations |
2 |
25 |
26 |
D |
D |
D |
TMD1,TH6 |
p.Ser
341
Cys
|
details |
homologous mutations |
12 |
44 |
45 |
D |
D |
D |
TMD1,TH6 |
p.Ser
341
Lys
|
details |
homologous mutations |
2 |
17 |
21 |
D |
D |
D |
TMD1,TH6 |
p.Ser
341
Arg
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
D |
TMD1,TH6 |
p.Ser
341
Pro
|
details |
homologous mutations |
4 |
7 |
9 |
D |
D |
D |
TMD1,TH6 |
p.Phe
342
Trp
|
details |
homologous mutations |
1 |
2 |
5 |
D |
N |
? |
TMD1,TH6 |
p.Phe
342
Cys
|
details |
homologous mutations |
2 |
2 |
2 |
D |
D |
? |
TMD1,TH6 |
p.Phe
342
Ala
|
details |
homologous mutations |
2 |
38 |
52 |
D |
D |
? |
TMD1,TH6 |
p.Cys
343
Ser
|
details |
homologous mutations |
5 |
13 |
13 |
N |
N |
? |
TMD1,TH6 |
p.Cys
343
Val
|
details |
homologous mutations |
1 |
1 |
1 |
D |
N |
? |
TMD1,TH6 |
p.Cys
343
Leu
|
details |
homologous mutations |
1 |
2 |
2 |
D |
N |
? |
TMD1,TH6 |
p.Cys
343
Thr
|
details |
homologous mutations |
1 |
2 |
2 |
N |
N |
? |
TMD1,TH6 |
p.Cys
343
Ala
|
details |
homologous mutations |
2 |
5 |
9 |
N |
N |
? |
TMD1,TH6 |
p.Ile
344
Ala
|
details |
homologous mutations |
4 |
17 |
22 |
N |
N |
? |
TMD1,TH6 |
p.Ile
344
Cys
|
details |
homologous mutations |
17 |
107 |
130 |
N |
N |
? |
TMD1,TH6 |
p.Ile
344
Lys
|
details |
homologous mutations |
4 |
110 |
131 |
N |
N |
? |
TMD1,TH6 |
p.Ile
344
His
|
details |
homologous mutations |
1 |
7 |
8 |
D |
N |
? |
TMD1,TH6 |
p.Ile
344
Arg
|
details |
homologous mutations |
1 |
4 |
4 |
N |
N |
? |
TMD1,TH6 |
p.Val
345
Cys
|
details |
homologous mutations |
9 |
37 |
40 |
D |
D |
? |
TMD1,TH6 |
p.Val
345
Ala
|
details |
homologous mutations |
1 |
4 |
8 |
N |
N |
? |
TMD1,TH6 |
p.Val
345
Lys
|
details |
homologous mutations |
3 |
40 |
42 |
D |
D |
? |
TMD1,TH6 |
p.Val
345
His
|
details |
homologous mutations |
1 |
11 |
12 |
D |
D |
? |
TMD1,TH6 |
p.Val
345
Arg
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
TMD1,TH6 |
p.Leu
346
Pro
|
details |
homologous mutations |
12 |
120 |
154 |
D |
D |
|
TMD1,TH6 |
p.Leu
346
Cys
|
details |
homologous mutations |
2 |
3 |
3 |
D |
D |
? |
TMD1,TH6 |
p.Leu
346
Ala
|
details |
homologous mutations |
1 |
3 |
7 |
D |
D |
? |
TMD1,TH6 |
p.Leu
346
Glu
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD1,TH6 |
p.Leu
346
Arg
|
details |
homologous mutations |
2 |
4 |
4 |
D |
D |
? |
TMD1,TH6 |
p.Arg
347
Pro
|
details |
homologous mutations |
376 |
709 |
787 |
D |
N |
D |
TMD1,TH6 |
p.Arg
347
Cys
|
details |
homologous mutations |
18 |
54 |
56 |
D |
D |
|
TMD1,TH6 |
p.Arg
347
His
|
details |
homologous mutations |
185 |
394 |
468 |
D |
N |
D |
TMD1,TH6 |
p.Arg
347
Glu
|
details |
homologous mutations |
24 |
134 |
144 |
D |
N |
? |
TMD1,TH6 |
p.Arg
347
Asp
|
details |
homologous mutations |
40 |
271 |
318 |
D |
D |
? |
TMD1,TH6 |
p.Arg
347
Lys
|
details |
homologous mutations |
3 |
17 |
19 |
D |
N |
? |
TMD1,TH6 |
p.Arg
347
Leu
|
details |
homologous mutations |
19 |
35 |
35 |
D |
N |
D |
TMD1,TH6 |
p.Arg
347
Trp
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD1,TH6 |
p.Arg
347
Ile
|
details |
homologous mutations |
2 |
14 |
15 |
D |
D |
? |
TMD1,TH6 |
p.Arg
347
Ala
|
details |
homologous mutations |
5 |
52 |
59 |
D |
N |
? |
TMD1,TH6 |
p.Arg
347
Gln
|
details |
homologous mutations |
1 |
1 |
1 |
D |
N |
? |
TMD1,TH6 |
p.Met
348
Lys
|
details |
homologous mutations |
12 |
81 |
111 |
D |
D |
|
TMD1,TH6 |
p.Met
348
Cys
|
details |
homologous mutations |
16 |
80 |
90 |
D |
D |
? |
TMD1,TH6 |
p.Met
348
Val
|
details |
homologous mutations |
3 |
9 |
9 |
N |
N |
? |
TMD1,TH6 |
p.Met
348
Thr
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD1,TH6 |
p.Met
348
Ala
|
details |
homologous mutations |
2 |
10 |
15 |
D |
D |
? |
TMD1,TH6 |
p.Met
348
Arg
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
TMD1,TH6 |
p.Met
348
Asn
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD1,TH6 |
p.Met
348
Ile
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
TMD1,TH6 |
p.Met
348
Glu
|
details |
homologous mutations |
1 |
1 |
2 |
D |
D |
? |
TMD1,TH6 |
p.Ala
349
Val
|
details |
homologous mutations |
14 |
20 |
21 |
N |
N |
D |
TMD1,TH6 |
p.Ala
349
Cys
|
details |
homologous mutations |
5 |
7 |
8 |
D |
N |
? |
TMD1,TH6 |
p.Ala
349
Ser
|
details |
homologous mutations |
2 |
5 |
9 |
N |
N |
? |
TMD1,TH6 |
p.Ala
349
Lys
|
details |
homologous mutations |
1 |
11 |
11 |
D |
N |
? |
TMD1,TH6 |
p.Val
350
Cys
|
details |
homologous mutations |
3 |
4 |
4 |
D |
N |
? |
TMD1,TH6 |
p.Val
350
Ala
|
details |
homologous mutations |
1 |
9 |
14 |
D |
N |
? |
TMD1,TH6 |
p.Val
350
Arg
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
TMD1,TH6 |
p.Thr
351
Ala
|
details |
homologous mutations |
2 |
6 |
10 |
D |
N |
? |
TMD1,TH6 |
p.Thr
351
Cys
|
details |
homologous mutations |
12 |
67 |
69 |
D |
N |
? |
TMD1,TH6 |
p.Thr
351
Ser
|
details |
homologous mutations |
7 |
10 |
10 |
D |
N |
|
TMD1,TH6 |
p.Thr
351
Arg
|
details |
homologous mutations |
1 |
1 |
1 |
D |
N |
? |
TMD1,TH6 |
p.Arg
352
Gln
|
details |
homologous mutations |
65 |
172 |
189 |
D |
N |
D |
TMD1,TH6 |
p.Arg
352
His
|
details |
homologous mutations |
3 |
18 |
18 |
D |
N |
D |
TMD1,TH6 |
p.Arg
352
Cys
|
details |
homologous mutations |
25 |
234 |
285 |
D |
N |
D |
TMD1,TH6 |
p.Arg
352
Glu
|
details |
homologous mutations |
7 |
73 |
156 |
D |
N |
D |
TMD1,TH6 |
p.Arg
352
Trp
|
details |
homologous mutations |
8 |
14 |
15 |
D |
N |
D |
TMD1,TH6 |
p.Arg
352
Lys
|
details |
homologous mutations |
3 |
28 |
36 |
D |
N |
D |
TMD1,TH6 |
p.Arg
352
Ala
|
details |
homologous mutations |
6 |
79 |
100 |
D |
N |
D |
TMD1,TH6 |
p.Arg
352
Gly
|
details |
homologous mutations |
1 |
2 |
2 |
D |
N |
D |
TMD1,TH6 |
p.Gln
353
Cys
|
details |
homologous mutations |
8 |
35 |
36 |
D |
N |
? |
TMD1,TH6 |
p.Gln
353
His
|
details |
homologous mutations |
1 |
1 |
1 |
D |
N |
|
TMD1,TH6 |
p.Gln
353
Ala
|
details |
homologous mutations |
1 |
4 |
8 |
D |
N |
? |
TMD1,TH6 |
p.Gln
353
*
|
details |
homologous mutations |
2 |
2 |
2 |
- |
- |
|
CL3 |
p.Phe
354
Ile
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
CL3 |
p.Phe
354
Arg
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
CL3 |
p.Pro
355
Ser
|
details |
homologous mutations |
2 |
6 |
7 |
D |
D |
? |
CL3 |
p.Pro
355
Leu
|
details |
homologous mutations |
2 |
3 |
3 |
D |
D |
? |
CL3 |
p.Pro
355
Ala
|
details |
homologous mutations |
1 |
52 |
62 |
D |
D |
? |
CL3 |
p.Pro
355
Phe
|
details |
homologous mutations |
1 |
5 |
6 |
D |
D |
? |
CL3 |
p.Trp
356
Cys
|
details |
homologous mutations |
5 |
39 |
48 |
N |
N |
? |
CL3 |
p.Trp
356
*
|
details |
homologous mutations |
2 |
2 |
2 |
- |
- |
|
CL3 |
p.Ala
357
Thr
|
details |
homologous mutations |
2 |
7 |
7 |
D |
N |
? |
CL3 |
p.Val
358
Ile
|
details |
homologous mutations |
1 |
3 |
3 |
N |
N |
? |
CL3 |
p.Gln
359
Lys
|
details |
homologous mutations |
21 |
42 |
47 |
N |
N |
? |
CL3 |
p.Gln
359
Arg
|
details |
homologous mutations |
2 |
3 |
3 |
D |
N |
|
CL3 |
p.Thr
360
Lys
|
details |
homologous mutations |
18 |
37 |
41 |
D |
N |
? |
CL3 |
p.Trp
361
Arg
|
details |
homologous mutations |
7 |
12 |
16 |
D |
D |
|
CL3 |
p.Tyr
362
*
|
details |
homologous mutations |
2 |
4 |
4 |
- |
- |
|
CL3 |
p.Ser
364
Pro
|
details |
homologous mutations |
11 |
17 |
19 |
D |
N |
|
CL3 |
p.Leu
365
Pro
|
details |
homologous mutations |
2 |
2 |
2 |
D |
N |
|
CL3 |
p.Asn
369
*
|
details |
homologous mutations |
1 |
4 |
4 |
- |
- |
? |
CL3 |
p.Lys
370
*
|
details |
homologous mutations |
3 |
20 |
21 |
- |
- |
? |
CL3 |
p.Lys
370
Cys
|
details |
homologous mutations |
1 |
13 |
13 |
D |
D |
? |
CL3 |
p.Gln
372
*
|
details |
homologous mutations |
1 |
1 |
1 |
- |
- |
? |
CL3 |
p.Phe
374
Ala
|
details |
homologous mutations |
1 |
14 |
26 |
D |
D |
? |
CL3 |
p.Leu
375
Phe
|
details |
homologous mutations |
6 |
19 |
26 |
N |
D |
|
CL3 |
p.Leu
375
Ala
|
details |
homologous mutations |
1 |
5 |
9 |
D |
D |
? |
CL3 |
p.Gln
378
Arg
|
details |
homologous mutations |
1 |
3 |
3 |
N |
N |
? |
CL3 |
p.Glu
379
Lys
|
details |
homologous mutations |
1 |
1 |
1 |
N |
D |
|
CL3 |
p.Glu
379
*
|
details |
homologous mutations |
1 |
1 |
1 |
- |
- |
|
CL3 |
p.Tyr
380
Cys
|
details |
homologous mutations |
1 |
3 |
3 |
N |
N |
? |
CL3 |
p.Leu
383
Ser
|
details |
homologous mutations |
1 |
5 |
5 |
N |
N |
|
CL3 |
p.Thr
388
Met
|
details |
homologous mutations |
2 |
4 |
4 |
N |
N |
? |
CL3 |
p.Thr
388
Ile
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
CL3 |
p.Thr
388
Lys
|
details |
homologous mutations |
1 |
6 |
6 |
N |
N |
? |
CL3 |
p.Thr
388
Arg
|
details |
homologous mutations |
1 |
2 |
2 |
N |
N |
? |
CL3 |
p.Val
392
Gly
|
details |
homologous mutations |
4 |
5 |
7 |
D |
D |
|
CL3 |
p.Val
392
Ala
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
|
CL3 |
p.Met
394
Arg
|
details |
homologous mutations |
1 |
1 |
2 |
N |
N |
|
CL3 |
p.Val
397
Ala
|
details |
homologous mutations |
1 |
6 |
6 |
N |
N |
? |
CL3 |
p.Ala
399
Asp
|
details |
homologous mutations |
2 |
2 |
2 |
D |
N |
|
CL3 |
p.Trp
401
*
|
details |
homologous mutations |
13 |
22 |
32 |
- |
- |
D |
CL3 |
p.Trp
401
Gly
|
details |
homologous mutations |
13 |
111 |
123 |
D |
D |
? |
CL3 |
p.Trp
401
Phe
|
details |
homologous mutations |
7 |
92 |
109 |
N |
D |
? |
CL3 |
p.Trp
401
Tyr
|
details |
homologous mutations |
2 |
24 |
26 |
N |
D |
? |
CL3 |
p.Trp
401
Ile
|
details |
homologous mutations |
2 |
4 |
5 |
D |
D |
? |
CL3 |
p.Trp
401
Ala
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
CL3 |
p.Glu
402
*
|
details |
homologous mutations |
2 |
9 |
9 |
- |
- |
? |
CL3 |
p.Glu
402
Cys
|
details |
homologous mutations |
1 |
11 |
11 |
N |
N |
? |
CL3 |
p.Glu
403
Asp
|
details |
homologous mutations |
2 |
3 |
3 |
N |
N |
|
CL3 |
p.Gly
406
Ala
|
details |
homologous mutations |
1 |
8 |
8 |
N |
N |
? |
CL3 |
p.Glu
407
Cys
|
details |
homologous mutations |
1 |
3 |
3 |
N |
D |
? |
CL3 |
p.Glu
407
Gln
|
details |
homologous mutations |
1 |
4 |
6 |
N |
N |
? |
CL3 |
p.Leu
408
Cys
|
details |
homologous mutations |
1 |
7 |
7 |
N |
N |
? |
CL3 |
p.Leu
408
Ala
|
details |
homologous mutations |
1 |
2 |
2 |
D |
N |
? |
CL3 |
p.Phe
409
Leu
|
details |
homologous mutations |
10 |
14 |
14 |
N |
N |
? |
CL3 |
p.Phe
409
Gly
|
details |
homologous mutations |
2 |
2 |
2 |
D |
N |
? |
CL3 |
p.Lys
411
Glu
|
details |
homologous mutations |
1 |
6 |
6 |
N |
N |
? |
CL3 |
p.Gln
414
*
|
details |
homologous mutations |
5 |
18 |
21 |
- |
- |
|
CL3 |
p.Asn
416
Ser
|
details |
homologous mutations |
3 |
6 |
12 |
N |
N |
? |
CL3 |
p.Asn
417
Lys
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
N |
CL3 |
p.Asn
418
Ser
|
details |
homologous mutations |
2 |
2 |
2 |
N |
N |
|
CL3 |
p.Arg
419
Ile
|
details |
homologous mutations |
1 |
8 |
8 |
N |
N |
? |
CL3 |
p.Lys
420
Ala
|
details |
homologous mutations |
1 |
8 |
8 |
N |
N |
? |
CL3 |
p.Thr
421
Ala
|
details |
homologous mutations |
2 |
10 |
11 |
N |
N |
? |
CL3 |
p.Ser
422
Ala
|
details |
homologous mutations |
5 |
18 |
22 |
N |
N |
? |
CL3 |
p.Ser
422
Asp
|
details |
homologous mutations |
3 |
7 |
7 |
N |
N |
? |
CL3 |
p.Ser
422
Pro
|
details |
homologous mutations |
4 |
7 |
12 |
N |
N |
? |
CL3,NBD1 |
p.Gly
424
Ser
|
details |
homologous mutations |
4 |
5 |
5 |
N |
N |
? |
CL3,NBD1 |
p.Asp
426
Cys
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
CL3,NBD1 |
p.Phe
429
Cys
|
details |
homologous mutations |
1 |
5 |
5 |
N |
N |
? |
CL3,NBD1 |
p.Phe
429
Ser
|
details |
homologous mutations |
22 |
53 |
67 |
N |
N |
? |
CL3,NBD1 |
p.Phe
429
Asn
|
details |
homologous mutations |
1 |
2 |
2 |
D |
N |
? |
CL3,NBD1 |
p.Phe
430
Cys
|
details |
homologous mutations |
1 |
5 |
5 |
N |
N |
? |
CL3,NBD1 |
p.Phe
430
Gly
|
details |
homologous mutations |
2 |
2 |
2 |
D |
D |
? |
CL3,NBD1 |
p.Ser
431
Gly
|
details |
homologous mutations |
3 |
3 |
3 |
N |
N |
? |
CL3,NBD1 |
p.Phe
433
Cys
|
details |
homologous mutations |
1 |
5 |
5 |
D |
N |
? |
CL3,NBD1 |
p.Phe
433
Leu
|
details |
homologous mutations |
11 |
15 |
15 |
N |
N |
? |
CL3,NBD1 |
p.Ser
434
Cys
|
details |
homologous mutations |
2 |
9 |
9 |
N |
N |
? |
CL3,NBD1 |
p.Ser
434
Pro
|
details |
homologous mutations |
4 |
7 |
12 |
N |
N |
? |
CL3,NBD1 |
p.Ser
434
*
|
details |
homologous mutations |
2 |
5 |
5 |
- |
- |
? |
CL3,NBD1 |
p.Leu
435
Val
|
details |
homologous mutations |
1 |
4 |
4 |
D |
N |
? |
CL3,NBD1 |
p.Leu
436
Phe
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
CL3,NBD1 |
p.Pro
439
Ser
|
details |
homologous mutations |
3 |
41 |
46 |
D |
D |
|
CL3,NBD1 |
p.Leu
441
Pro
|
details |
homologous mutations |
5 |
42 |
51 |
D |
D |
|
CL3,NBD1 |
p.Lys
442
*
|
details |
homologous mutations |
1 |
4 |
5 |
- |
- |
? |
CL3,NBD1 |
p.Asp
443
Tyr
|
details |
homologous mutations |
26 |
98 |
147 |
D |
D |
|
CL3,NBD1 |
p.Ile
444
Ser
|
details |
homologous mutations |
2 |
3 |
3 |
D |
D |
|
CL3,NBD1 |
p.Phe
446
Cys
|
details |
homologous mutations |
1 |
7 |
7 |
N |
D |
? |
CL3,NBD1 |
p.Lys
447
Arg
|
details |
homologous mutations |
1 |
8 |
10 |
N |
N |
? |
CL3,NBD1 |
p.Gly
451
Val
|
details |
homologous mutations |
1 |
4 |
4 |
D |
D |
? |
CL3,NBD1 |
p.Gly
451
Lys
|
details |
homologous mutations |
1 |
8 |
8 |
D |
D |
? |
CL3,NBD1 |
p.Gln
452
Pro
|
details |
homologous mutations |
3 |
7 |
7 |
D |
D |
|
CL3,NBD1 |
p.Ala
455
Glu
|
details |
homologous mutations |
319 |
1068 |
1333 |
N |
D |
D |
CL3,NBD1 |
p.Ala
455
Leu
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
CL3,NBD1 |
p.Ala
455
Val
|
details |
homologous mutations |
2 |
2 |
3 |
D |
D |
? |
CL3,NBD1 |
p.Val
456
Ala
|
details |
homologous mutations |
8 |
29 |
30 |
D |
D |
D |
CL3,NBD1 |
p.Val
456
Phe
|
details |
homologous mutations |
6 |
22 |
24 |
N |
D |
|
CL3,NBD1 |
p.Ala
457
Pro
|
details |
homologous mutations |
1 |
15 |
16 |
D |
N |
? |
CL3,NBD1,WA1 |
p.Gly
458
Val
|
details |
homologous mutations |
18 |
42 |
55 |
D |
D |
D |
CL3,NBD1,WA1 |
p.Ser
459
Phe
|
details |
homologous mutations |
1 |
2 |
3 |
D |
D |
? |
CL3,NBD1,WA1 |
p.Ser
459
Arg
|
details |
homologous mutations |
1 |
1 |
1 |
D |
N |
? |
CL3,NBD1,WA1 |
p.Ser
459
Asn
|
details |
homologous mutations |
1 |
1 |
1 |
D |
N |
? |
CL3,NBD1,WA1 |
p.Ser
459
Cys
|
details |
homologous mutations |
1 |
7 |
7 |
D |
D |
? |
CL3,NBD1,WA1 |
p.Thr
460
Ser
|
details |
homologous mutations |
1 |
53 |
67 |
D |
N |
? |
CL3,NBD1,WA1 |
p.Ala
462
Phe
|
details |
homologous mutations |
6 |
26 |
27 |
D |
D |
? |
CL3,NBD1,WA1 |
p.Ala
462
Cys
|
details |
homologous mutations |
3 |
11 |
11 |
D |
N |
? |
CL3,NBD1,WA1 |
p.Gly
463
Asp
|
details |
homologous mutations |
2 |
3 |
3 |
D |
D |
? |
CL3,NBD1,WA1 |
p.Lys
464
Ala
|
details |
homologous mutations |
54 |
519 |
588 |
D |
D |
? |
CL3,NBD1,WA1 |
p.Lys
464
Met
|
details |
homologous mutations |
4 |
12 |
12 |
D |
D |
? |
CL3,NBD1,WA1 |
p.Lys
464
His
|
details |
homologous mutations |
3 |
28 |
30 |
D |
D |
? |
CL3,NBD1,WA1 |
p.Lys
464
Asn
|
details |
homologous mutations |
2 |
6 |
10 |
D |
D |
|
CL3,NBD1,WA1 |
p.Lys
464
Leu
|
details |
homologous mutations |
2 |
12 |
12 |
D |
D |
? |
CL3,NBD1,WA1 |
p.Lys
464
Arg
|
details |
homologous mutations |
3 |
7 |
8 |
D |
D |
? |
CL3,NBD1,WA1 |
p.Lys
464
Trp
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
CL3,NBD1,WA1 |
p.Lys
464
Gln
|
details |
homologous mutations |
3 |
29 |
30 |
D |
D |
? |
CL3,NBD1,WA1 |
p.Thr
465
Asn
|
details |
homologous mutations |
2 |
11 |
16 |
D |
N |
? |
CL3,NBD1 |
p.Ser
466
Leu
|
details |
homologous mutations |
2 |
4 |
4 |
D |
D |
|
CL3,NBD1 |
p.Ser
466
*
|
details |
homologous mutations |
19 |
65 |
76 |
- |
- |
D |
CL3,NBD1 |
p.Ser
466
Thr
|
details |
homologous mutations |
1 |
3 |
4 |
D |
N |
? |
CL3,NBD1 |
p.Leu
467
Phe
|
details |
homologous mutations |
8 |
18 |
20 |
D |
D |
|
CL3,NBD1 |
p.Leu
467
Pro
|
details |
homologous mutations |
9 |
16 |
19 |
D |
D |
D |
CL3,NBD1 |
p.Met
469
Ile
|
details |
homologous mutations |
2 |
34 |
36 |
N |
N |
|
CL3,NBD1 |
p.Met
469
Val
|
details |
homologous mutations |
3 |
12 |
14 |
N |
N |
|
CL3,NBD1 |
p.Val
470
Met
|
details |
homologous mutations |
9 |
25 |
27 |
N |
N |
N |
CL3,NBD1 |
p.Leu
475
Tyr
|
details |
homologous mutations |
1 |
3 |
5 |
N |
D |
? |
CL3,NBD1 |
p.Glu
479
*
|
details |
homologous mutations |
1 |
8 |
9 |
- |
- |
|
CL3,NBD1 |
p.Gly
480
Cys
|
details |
homologous mutations |
46 |
221 |
244 |
N |
D |
D |
CL3,NBD1 |
p.Gly
480
Ser
|
details |
homologous mutations |
1 |
4 |
5 |
D |
D |
|
CL3,NBD1 |
p.Gly
480
Asp
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
|
CL3,NBD1 |
p.Lys
481
Glu
|
details |
homologous mutations |
1 |
2 |
2 |
D |
N |
? |
CL3,NBD1 |
p.His
484
Tyr
|
details |
homologous mutations |
2 |
3 |
3 |
D |
N |
|
CL3,NBD1 |
p.His
484
Arg
|
details |
homologous mutations |
2 |
2 |
2 |
D |
N |
? |
CL3,NBD1 |
p.Ser
485
Cys
|
details |
homologous mutations |
4 |
10 |
10 |
N |
D |
|
CL3,NBD1 |
p.Ser
485
Arg
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
CL3,NBD1 |
p.Arg
487
Gln
|
details |
homologous mutations |
1 |
2 |
2 |
D |
N |
? |
CL3,NBD1 |
p.Arg
487
Ala
|
details |
homologous mutations |
1 |
1 |
1 |
D |
N |
? |
CL3,NBD1 |
p.Arg
487
Ser
|
details |
homologous mutations |
1 |
2 |
2 |
D |
N |
? |
CL3,NBD1 |
p.Ser
489
*
|
details |
homologous mutations |
89 |
303 |
343 |
- |
- |
D |
CL3,NBD1 |
p.Phe
490
Leu
|
details |
homologous mutations |
1 |
4 |
5 |
D |
D |
? |
CL3,NBD1 |
p.Cys
491
Ser
|
details |
homologous mutations |
9 |
56 |
68 |
N |
N |
? |
CL3,NBD1 |
p.Cys
491
Arg
|
details |
homologous mutations |
2 |
2 |
3 |
D |
N |
|
CL3,NBD1 |
p.Cys
491
Ala
|
details |
homologous mutations |
1 |
19 |
24 |
N |
N |
? |
CL3,NBD1 |
p.Cys
491
Phe
|
details |
homologous mutations |
1 |
2 |
2 |
D |
N |
? |
CL3,NBD1 |
p.Cys
491
Val
|
details |
homologous mutations |
1 |
2 |
2 |
N |
N |
? |
CL3,NBD1 |
p.Ser
492
Phe
|
details |
homologous mutations |
27 |
40 |
44 |
D |
D |
D |
CL3,NBD1 |
p.Ser
492
Pro
|
details |
homologous mutations |
6 |
28 |
39 |
D |
N |
? |
CL3,NBD1 |
p.Gln
493
*
|
details |
homologous mutations |
77 |
105 |
112 |
- |
- |
D |
CL3,NBD1 |
p.Gln
493
Arg
|
details |
homologous mutations |
7 |
8 |
9 |
D |
D |
|
CL3,NBD1 |
p.Gln
493
Ala
|
details |
homologous mutations |
2 |
18 |
20 |
D |
D |
D |
CL3,NBD1 |
p.Gln
493
Pro
|
details |
homologous mutations |
1 |
4 |
4 |
D |
D |
|
CL3,NBD1 |
p.Gln
493
Leu
|
details |
homologous mutations |
2 |
9 |
10 |
D |
D |
D |
CL3,NBD1 |
p.Gln
493
His
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
D |
CL3,NBD1 |
p.Phe
494
Asn
|
details |
homologous mutations |
28 |
110 |
150 |
N |
N |
? |
CL3,NBD1 |
p.Phe
494
Gly
|
details |
homologous mutations |
1 |
2 |
2 |
N |
N |
? |
CL3,NBD1 |
p.Phe
494
Leu
|
details |
homologous mutations |
1 |
10 |
10 |
N |
N |
? |
CL3,NBD1 |
p.Ser
495
Tyr
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
CL3,NBD1 |
p.Ser
495
Pro
|
details |
homologous mutations |
2 |
9 |
9 |
N |
N |
? |
CL3,NBD1 |
p.Trp
496
*
|
details |
homologous mutations |
4 |
7 |
8 |
- |
- |
|
CL3,NBD1 |
p.Trp
496
Phe
|
details |
homologous mutations |
2 |
6 |
6 |
D |
D |
? |
CL3,NBD1 |
p.Trp
496
Cys
|
details |
homologous mutations |
2 |
5 |
5 |
D |
D |
? |
CL3,NBD1 |
p.Trp
496
Val
|
details |
homologous mutations |
1 |
3 |
6 |
D |
D |
? |
CL3,NBD1 |
p.Met
498
Cys
|
details |
homologous mutations |
2 |
5 |
5 |
D |
D |
? |
CL3,NBD1 |
p.Pro
499
Ala
|
details |
homologous mutations |
3 |
20 |
23 |
D |
D |
|
CL3,NBD1 |
p.Thr
501
Ile
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
CL3,NBD1 |
p.Thr
501
Ala
|
details |
homologous mutations |
2 |
5 |
5 |
D |
D |
|
CL3,NBD1 |
p.Ile
502
Thr
|
details |
homologous mutations |
7 |
12 |
13 |
D |
D |
|
CL3,NBD1 |
p.Glu
504
Gln
|
details |
homologous mutations |
4 |
11 |
11 |
N |
N |
|
CL3,NBD1 |
p.Asn
505
Cys
|
details |
homologous mutations |
2 |
6 |
7 |
D |
D |
? |
CL3,NBD1 |
p.Asn
505
Ala
|
details |
homologous mutations |
1 |
3 |
3 |
D |
D |
? |
CL3,NBD1 |
p.Ile
506
Val
|
details |
homologous mutations |
34 |
61 |
67 |
N |
N |
N |
CL3,NBD1 |
p.Ile
506
Thr
|
details |
homologous mutations |
15 |
20 |
20 |
D |
D |
|
CL3,NBD1 |
p.Ile
506
Met
|
details |
homologous mutations |
6 |
7 |
8 |
D |
D |
|
CL3,NBD1 |
p.Ile
506
Leu
|
details |
homologous mutations |
4 |
13 |
15 |
D |
N |
|
CL3,NBD1 |
p.Ile
506
Cys
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
CL3,NBD1 |
p.Ile
506
Ser
|
details |
homologous mutations |
1 |
4 |
4 |
D |
D |
|
CL3,NBD1 |
p.Ile
507
Val
|
details |
homologous mutations |
21 |
34 |
36 |
N |
N |
N |
CL3,NBD1 |
p.Ile
507
Leu
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
CL3,NBD1 |
p.Ile
507
Thr
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
CL3,NBD1 |
p.Phe
508
Cys
|
details |
homologous mutations |
90 |
231 |
258 |
D |
D |
N |
CL3,NBD1 |
p.Phe
508
Asp
|
details |
homologous mutations |
4 |
15 |
16 |
D |
D |
? |
CL3,NBD1 |
p.Phe
508
Ala
|
details |
homologous mutations |
16 |
69 |
71 |
D |
D |
? |
CL3,NBD1 |
p.Phe
508
Ser
|
details |
homologous mutations |
7 |
30 |
33 |
D |
D |
|
CL3,NBD1 |
p.Phe
508
Arg
|
details |
homologous mutations |
11 |
38 |
41 |
D |
D |
? |
CL3,NBD1 |
p.Phe
508
Trp
|
details |
homologous mutations |
2 |
9 |
10 |
D |
D |
? |
CL3,NBD1 |
p.Phe
508
Met
|
details |
homologous mutations |
1 |
6 |
6 |
D |
D |
? |
CL3,NBD1 |
p.Phe
508
Pro
|
details |
homologous mutations |
2 |
8 |
8 |
D |
D |
? |
CL3,NBD1 |
p.Phe
508
Gln
|
details |
homologous mutations |
1 |
6 |
6 |
D |
D |
? |
CL3,NBD1 |
p.Phe
508
Gly
|
details |
homologous mutations |
2 |
3 |
3 |
D |
D |
? |
CL3,NBD1 |
p.Phe
508
Leu
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
CL3,NBD1 |
p.Phe
508
Asn
|
details |
homologous mutations |
2 |
7 |
9 |
D |
D |
? |
CL3,NBD1 |
p.Phe
508
Thr
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
CL3,NBD1 |
p.Phe
508
Val
|
details |
homologous mutations |
2 |
3 |
3 |
D |
D |
? |
CL3,NBD1 |
p.Phe
508
Glu
|
details |
homologous mutations |
2 |
3 |
3 |
D |
D |
? |
CL3,NBD1 |
p.Phe
508
His
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
CL3,NBD1 |
p.Phe
508
Ile
|
details |
homologous mutations |
2 |
4 |
4 |
D |
D |
? |
CL3,NBD1 |
p.Phe
508
Lys
|
details |
homologous mutations |
3 |
16 |
17 |
D |
D |
? |
CL3,NBD1 |
p.Phe
508
Tyr
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
CL3,NBD1 |
p.Phe
508
*
|
details |
homologous mutations |
3 |
4 |
4 |
- |
- |
? |
CL3,NBD1 |
p.Val
510
Ala
|
details |
homologous mutations |
21 |
98 |
123 |
N |
N |
? |
CL3,NBD1 |
p.Val
510
Cys
|
details |
homologous mutations |
13 |
34 |
36 |
N |
N |
? |
CL3,NBD1 |
p.Val
510
Asp
|
details |
homologous mutations |
29 |
217 |
256 |
N |
N |
? |
CL3,NBD1 |
p.Val
510
*
|
details |
homologous mutations |
1 |
3 |
3 |
- |
- |
? |
CL3,NBD1 |
p.Val
510
Pro
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
CL3,NBD1 |
p.Val
510
Thr
|
details |
homologous mutations |
2 |
3 |
3 |
N |
N |
? |
CL3,NBD1 |
p.Val
510
Gly
|
details |
homologous mutations |
2 |
5 |
5 |
N |
N |
? |
CL3,NBD1 |
p.Val
510
Ser
|
details |
homologous mutations |
1 |
2 |
2 |
N |
N |
? |
CL3,NBD1 |
p.Val
510
Glu
|
details |
homologous mutations |
1 |
4 |
4 |
N |
N |
? |
CL3,NBD1 |
p.Val
510
Arg
|
details |
homologous mutations |
2 |
9 |
9 |
N |
N |
? |
CL3,NBD1 |
p.Ser
511
Ala
|
details |
homologous mutations |
3 |
30 |
31 |
N |
N |
? |
CL3,NBD1 |
p.Ser
511
Asp
|
details |
homologous mutations |
3 |
25 |
30 |
N |
N |
? |
CL3,NBD1 |
p.Ser
511
Cys
|
details |
homologous mutations |
1 |
3 |
3 |
N |
D |
? |
CL3,NBD1 |
p.Tyr
512
Ala
|
details |
homologous mutations |
3 |
6 |
7 |
D |
D |
? |
CL3,NBD1 |
p.Tyr
512
Glu
|
details |
homologous mutations |
1 |
4 |
4 |
D |
D |
? |
CL3,NBD1 |
p.Tyr
512
Phe
|
details |
homologous mutations |
2 |
9 |
9 |
D |
N |
? |
CL3,NBD1 |
p.Tyr
512
Asp
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
CL3,NBD1 |
p.Tyr
515
His
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
CL3,NBD1 |
p.Arg
516
Lys
|
details |
homologous mutations |
8 |
19 |
19 |
N |
N |
? |
CL3,NBD1 |
p.Arg
516
Ala
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
CL3,NBD1 |
p.Tyr
517
Ala
|
details |
homologous mutations |
2 |
26 |
31 |
D |
D |
? |
CL3,NBD1 |
p.Tyr
517
Cys
|
details |
homologous mutations |
2 |
5 |
5 |
D |
D |
? |
CL3,NBD1 |
p.Tyr
517
Ile
|
details |
homologous mutations |
1 |
3 |
6 |
D |
D |
? |
CL3,NBD1 |
p.Arg
518
Ala
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
CL3,NBD1 |
p.Arg
518
Lys
|
details |
homologous mutations |
1 |
4 |
4 |
N |
N |
? |
CL3,NBD1 |
p.Ser
519
Gly
|
details |
homologous mutations |
1 |
3 |
3 |
N |
N |
? |
CL3,NBD1 |
p.Val
520
Phe
|
details |
homologous mutations |
95 |
149 |
160 |
D |
D |
D |
CL3,NBD1 |
p.Val
520
Ile
|
details |
homologous mutations |
4 |
5 |
5 |
D |
N |
|
CL3,NBD1 |
p.Ile
521
Phe
|
details |
homologous mutations |
2 |
2 |
2 |
D |
D |
? |
CL3,NBD1 |
p.Cys
524
*
|
details |
homologous mutations |
11 |
13 |
15 |
- |
- |
D |
CL3,NBD1 |
p.Cys
524
Ser
|
details |
homologous mutations |
6 |
16 |
20 |
D |
D |
? |
CL3,NBD1 |
p.Cys
524
Ala
|
details |
homologous mutations |
1 |
3 |
6 |
D |
D |
? |
CL3,NBD1 |
p.Cys
524
Tyr
|
details |
homologous mutations |
1 |
2 |
3 |
D |
D |
? |
CL3,NBD1 |
p.Cys
524
Thr
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
CL3,NBD1 |
p.Gln
525
*
|
details |
homologous mutations |
5 |
6 |
6 |
- |
- |
|
CL3,NBD1 |
p.Leu
526
Ala
|
details |
homologous mutations |
1 |
3 |
6 |
N |
D |
? |
CL3,NBD1 |
p.Glu
527
Gly
|
details |
homologous mutations |
4 |
8 |
9 |
D |
D |
? |
CL3,NBD1 |
p.Glu
527
Gln
|
details |
homologous mutations |
1 |
4 |
4 |
N |
N |
|
CL3,NBD1 |
p.Glu
527
Asn
|
details |
homologous mutations |
1 |
6 |
6 |
N |
N |
? |
CL3,NBD1 |
p.Glu
528
Asp
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
|
CL3,NBD1 |
p.Glu
528
Gln
|
details |
homologous mutations |
1 |
3 |
4 |
N |
N |
? |
CL3,NBD1 |
p.Glu
528
*
|
details |
homologous mutations |
1 |
1 |
1 |
- |
- |
N |
CL3,NBD1 |
p.Asp
529
Phe
|
details |
homologous mutations |
1 |
19 |
23 |
D |
D |
? |
CL3,NBD1 |
p.Asp
529
Asn
|
details |
homologous mutations |
1 |
6 |
10 |
D |
D |
? |
CL3,NBD1 |
p.Ile
530
Leu
|
details |
homologous mutations |
2 |
8 |
10 |
N |
N |
|
CL3,NBD1 |
p.Ser
531
Pro
|
details |
homologous mutations |
2 |
13 |
22 |
N |
N |
? |
CL3,NBD1 |
p.Ser
531
Thr
|
details |
homologous mutations |
1 |
3 |
3 |
N |
N |
? |
CL3,NBD1 |
p.Lys
532
Glu
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
CL3,NBD1 |
p.Phe
533
Leu
|
details |
homologous mutations |
2 |
9 |
9 |
N |
N |
|
CL3,NBD1 |
p.Ala
534
Glu
|
details |
homologous mutations |
3 |
4 |
4 |
N |
N |
D |
CL3,NBD1 |
p.Ala
534
Pro
|
details |
homologous mutations |
5 |
15 |
24 |
N |
N |
? |
CL3,NBD1 |
p.Ala
534
Gln
|
details |
homologous mutations |
1 |
3 |
3 |
N |
N |
? |
CL3,NBD1 |
p.Lys
536
*
|
details |
homologous mutations |
4 |
12 |
12 |
- |
- |
|
CL3,NBD1 |
p.Lys
536
Gln
|
details |
homologous mutations |
2 |
10 |
13 |
N |
N |
? |
CL3,NBD1 |
p.Asp
537
Asn
|
details |
homologous mutations |
1 |
5 |
5 |
D |
D |
? |
CL3,NBD1 |
p.Asp
537
Glu
|
details |
homologous mutations |
1 |
2 |
3 |
D |
D |
|
CL3,NBD1 |
p.Asp
537
Phe
|
details |
homologous mutations |
1 |
3 |
4 |
D |
D |
? |
CL3,NBD1 |
p.Ile
539
Thr
|
details |
homologous mutations |
36 |
259 |
304 |
N |
N |
? |
CL3,NBD1 |
p.Leu
541
Pro
|
details |
homologous mutations |
3 |
15 |
18 |
D |
D |
? |
CL3,NBD1 |
p.Gly
542
*
|
details |
homologous mutations |
792 |
2752 |
3356 |
- |
- |
D |
CL3,NBD1 |
p.Gly
542
Asp
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
D |
CL3,NBD1 |
p.Gly
542
Trp
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
D |
CL3,NBD1 |
p.Glu
543
Cys
|
details |
homologous mutations |
1 |
8 |
11 |
D |
D |
? |
CL3,NBD1 |
p.Glu
543
Ala
|
details |
homologous mutations |
3 |
19 |
19 |
D |
D |
? |
CL3,NBD1 |
p.Gly
544
Ser
|
details |
homologous mutations |
5 |
13 |
14 |
D |
N |
? |
CL3,NBD1 |
p.Gly
544
Val
|
details |
homologous mutations |
3 |
7 |
7 |
D |
D |
|
CL3,NBD1 |
p.Thr
547
Cys
|
details |
homologous mutations |
1 |
5 |
5 |
D |
D |
? |
CL3,NBD1,SIG1 |
p.Leu
548
Gln
|
details |
homologous mutations |
2 |
5 |
7 |
D |
D |
? |
CL3,NBD1,SIG1 |
p.Leu
548
Cys
|
details |
homologous mutations |
1 |
3 |
3 |
D |
D |
? |
CL3,NBD1,SIG1 |
p.Ser
549
Arg
|
details |
homologous mutations |
143 |
384 |
463 |
N |
D |
D |
CL3,NBD1,SIG1 |
p.Ser
549
Asn
|
details |
homologous mutations |
177 |
376 |
426 |
N |
D |
D |
CL3,NBD1,SIG1 |
p.Ser
549
Ile
|
details |
homologous mutations |
24 |
31 |
35 |
D |
D |
D |
CL3,NBD1,SIG1 |
p.Ser
549
Cys
|
details |
homologous mutations |
5 |
83 |
101 |
D |
D |
D |
CL3,NBD1,SIG1 |
p.Ser
549
Lys
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
D |
CL3,NBD1,SIG1 |
p.Gly
550
Glu
|
details |
homologous mutations |
52 |
354 |
401 |
D |
D |
? |
CL3,NBD1,SIG1 |
p.Gly
550
His
|
details |
homologous mutations |
1 |
3 |
3 |
D |
D |
? |
CL3,NBD1,SIG1 |
p.Gly
550
Asp
|
details |
homologous mutations |
1 |
5 |
5 |
D |
D |
? |
CL3,NBD1,SIG1 |
p.Gly
550
Arg
|
details |
homologous mutations |
5 |
5 |
5 |
D |
D |
|
CL3,NBD1,SIG1 |
p.Gly
550
*
|
details |
homologous mutations |
2 |
3 |
3 |
- |
- |
|
CL3,NBD1,SIG1 |
p.Gly
551
Asp
|
details |
homologous mutations |
1116 |
6435 |
7514 |
D |
D |
D |
CL3,NBD1,SIG1 |
p.Gly
551
Ser
|
details |
homologous mutations |
70 |
161 |
189 |
N |
D |
D |
CL3,NBD1,SIG1 |
p.Gly
551
Ala
|
details |
homologous mutations |
4 |
23 |
23 |
D |
D |
D |
CL3,NBD1,SIG1 |
p.Gly
551
Cys
|
details |
homologous mutations |
2 |
23 |
26 |
D |
D |
D |
CL3,NBD1,SIG1 |
p.Gly
551
Arg
|
details |
homologous mutations |
2 |
2 |
2 |
D |
D |
D |
CL3,NBD1,SIG1 |
p.Gly
551
*
|
details |
homologous mutations |
2 |
5 |
5 |
- |
- |
D |
CL3,NBD1,SIG1 |
p.Gly
551
Glu
|
details |
homologous mutations |
2 |
6 |
6 |
D |
D |
D |
CL3,NBD1,SIG1 |
p.Gly
551
Lys
|
details |
homologous mutations |
1 |
4 |
4 |
D |
D |
D |
CL3,NBD1,SIG1 |
p.Gln
552
*
|
details |
homologous mutations |
67 |
93 |
101 |
- |
- |
D |
CL3,NBD1,SIG1 |
p.Gln
552
His
|
details |
homologous mutations |
4 |
6 |
6 |
D |
D |
D |
CL3,NBD1,SIG1 |
p.Gln
552
Ala
|
details |
homologous mutations |
3 |
6 |
6 |
D |
D |
D |
CL3,NBD1,SIG1 |
p.Gln
552
Cys
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
D |
CL3,NBD1,SIG1 |
p.Arg
553
*
|
details |
homologous mutations |
538 |
1377 |
1612 |
- |
- |
D |
CL3,NBD1,SIG1 |
p.Arg
553
Gln
|
details |
homologous mutations |
63 |
189 |
217 |
D |
N |
D |
CL3,NBD1,SIG1 |
p.Arg
553
Gly
|
details |
homologous mutations |
13 |
21 |
23 |
D |
D |
|
CL3,NBD1,SIG1 |
p.Arg
553
Met
|
details |
homologous mutations |
31 |
175 |
209 |
D |
D |
D |
CL3,NBD1,SIG1 |
p.Arg
553
Lys
|
details |
homologous mutations |
3 |
3 |
3 |
D |
N |
D |
CL3,NBD1,SIG1 |
p.Arg
553
Cys
|
details |
homologous mutations |
1 |
3 |
3 |
D |
D |
D |
CL3,NBD1,SIG1 |
p.Arg
553
Asp
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
D |
CL3,NBD1,SIG1 |
p.Ala
554
Glu
|
details |
homologous mutations |
2 |
17 |
19 |
N |
N |
? |
CL3,NBD1,SIG1 |
p.Arg
555
Lys
|
details |
homologous mutations |
62 |
265 |
305 |
D |
D |
? |
CL3,NBD1,SIG1 |
p.Arg
555
Gln
|
details |
homologous mutations |
1 |
3 |
5 |
D |
D |
? |
CL3,NBD1,SIG1 |
p.Arg
555
Thr
|
details |
homologous mutations |
2 |
2 |
2 |
D |
D |
? |
CL3,NBD1,SIG1 |
p.Arg
555
Gly
|
details |
homologous mutations |
2 |
3 |
4 |
D |
D |
|
CL3,NBD1,SIG1 |
p.Arg
555
Ala
|
details |
homologous mutations |
1 |
3 |
3 |
D |
D |
? |
CL3,NBD1,SIG1 |
p.Ile
556
Val
|
details |
homologous mutations |
20 |
92 |
143 |
N |
N |
|
CL3,NBD1,SIG1 |
p.Leu
558
Ser
|
details |
homologous mutations |
28 |
40 |
43 |
D |
D |
D |
CL3,NBD1,SIG1 |
p.Ala
559
Thr
|
details |
homologous mutations |
53 |
95 |
98 |
N |
D |
D |
CL3,NBD1,SIG1 |
p.Ala
559
Glu
|
details |
homologous mutations |
2 |
3 |
3 |
D |
D |
|
CL3,NBD1,SIG1 |
p.Arg
560
Thr
|
details |
homologous mutations |
222 |
431 |
471 |
D |
D |
D |
CL3,NBD1,SIG1 |
p.Arg
560
Ser
|
details |
homologous mutations |
8 |
20 |
21 |
D |
D |
|
CL3,NBD1,SIG1 |
p.Arg
560
Lys
|
details |
homologous mutations |
23 |
26 |
29 |
N |
D |
D |
CL3,NBD1,SIG1 |
p.Arg
560
Cys
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
CL3,NBD1,SIG1 |
p.Arg
560
Gly
|
details |
homologous mutations |
3 |
3 |
3 |
D |
D |
|
CL3,NBD1,SIG1 |
p.Ala
561
Glu
|
details |
homologous mutations |
20 |
160 |
203 |
N |
D |
D |
CL3,NBD1,SIG1 |
p.Val
562
Leu
|
details |
homologous mutations |
6 |
18 |
18 |
N |
N |
|
CL3,NBD1,SIG1 |
p.Val
562
Ile
|
details |
homologous mutations |
27 |
118 |
157 |
N |
N |
|
CL3,NBD1,SIG1 |
p.Val
562
Ala
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
CL3,NBD1 |
p.Tyr
563
Asn
|
details |
homologous mutations |
23 |
49 |
64 |
D |
D |
D |
CL3,NBD1 |
p.Tyr
563
Asp
|
details |
homologous mutations |
10 |
16 |
19 |
D |
D |
|
CL3,NBD1 |
p.Tyr
563
Cys
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
D |
CL3,NBD1 |
p.Tyr
563
*
|
details |
homologous mutations |
2 |
4 |
4 |
- |
- |
D |
CL3,NBD1 |
p.Tyr
563
Val
|
details |
homologous mutations |
1 |
3 |
6 |
D |
D |
D |
CL3,NBD1 |
p.Tyr
563
His
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
D |
CL3,NBD1 |
p.Lys
564
Cys
|
details |
homologous mutations |
2 |
4 |
4 |
N |
N |
? |
CL3,NBD1 |
p.Asp
565
Gly
|
details |
homologous mutations |
16 |
77 |
92 |
D |
D |
|
CL3,NBD1 |
p.Asp
565
Ala
|
details |
homologous mutations |
2 |
8 |
9 |
D |
D |
? |
CL3,NBD1 |
p.Ala
566
Thr
|
details |
homologous mutations |
1 |
7 |
8 |
N |
D |
|
CL3,NBD1 |
p.Ala
566
Asp
|
details |
homologous mutations |
1 |
7 |
10 |
D |
D |
? |
CL3,NBD1 |
p.Ala
566
Pro
|
details |
homologous mutations |
1 |
3 |
4 |
D |
D |
? |
CL3,NBD1 |
p.Asp
567
Ala
|
details |
homologous mutations |
3 |
12 |
14 |
N |
D |
? |
CL3,NBD1,WB1 |
p.Leu
568
Phe
|
details |
homologous mutations |
4 |
8 |
9 |
D |
N |
|
CL3,NBD1,WB1 |
p.Leu
568
*
|
details |
homologous mutations |
3 |
7 |
7 |
- |
- |
|
CL3,NBD1,WB1 |
p.Tyr
569
Asp
|
details |
homologous mutations |
14 |
32 |
46 |
D |
D |
|
CL3,NBD1,WB1 |
p.Tyr
569
Cys
|
details |
homologous mutations |
3 |
9 |
11 |
D |
D |
|
CL3,NBD1,WB1 |
p.Tyr
569
*
|
details |
homologous mutations |
2 |
2 |
2 |
- |
- |
|
CL3,NBD1,WB1 |
p.Tyr
569
His
|
details |
homologous mutations |
2 |
2 |
2 |
N |
D |
|
CL3,NBD1,WB1 |
p.Leu
570
Asp
|
details |
homologous mutations |
1 |
3 |
3 |
D |
D |
? |
CL3,NBD1,WB1 |
p.Leu
571
Ser
|
details |
homologous mutations |
8 |
14 |
15 |
D |
D |
|
CL3,NBD1,WB1 |
p.Leu
571
Asp
|
details |
homologous mutations |
1 |
3 |
3 |
D |
D |
? |
CL3,NBD1,WB1 |
p.Asp
572
Asn
|
details |
homologous mutations |
17 |
73 |
75 |
D |
D |
|
CL3,NBD1,WB1 |
p.Asp
572
Met
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
CL3,NBD1,WB1 |
p.Asp
572
Ala
|
details |
homologous mutations |
2 |
6 |
7 |
D |
D |
? |
CL3,NBD1 |
p.Ser
573
Glu
|
details |
homologous mutations |
3 |
25 |
27 |
N |
N |
? |
CL3,NBD1 |
p.Ser
573
Cys
|
details |
homologous mutations |
3 |
47 |
53 |
D |
D |
? |
CL3,NBD1 |
p.Ser
573
Ala
|
details |
homologous mutations |
2 |
18 |
20 |
N |
N |
? |
CL3,NBD1 |
p.Pro
574
His
|
details |
homologous mutations |
92 |
409 |
511 |
D |
D |
D |
CL3,NBD1 |
p.Pro
574
Ser
|
details |
homologous mutations |
3 |
44 |
59 |
D |
D |
|
CL3,NBD1 |
p.Pro
574
Ala
|
details |
homologous mutations |
1 |
3 |
5 |
D |
D |
? |
CL3,NBD1 |
p.Phe
575
Tyr
|
details |
homologous mutations |
3 |
6 |
7 |
D |
N |
? |
CL3,NBD1 |
p.Phe
575
Thr
|
details |
homologous mutations |
1 |
3 |
4 |
N |
D |
? |
CL3,NBD1 |
p.Gly
576
Ala
|
details |
homologous mutations |
85 |
257 |
336 |
D |
N |
|
CL3,NBD1 |
p.Gly
576
*
|
details |
homologous mutations |
3 |
3 |
3 |
- |
- |
|
CL3,NBD1 |
p.Gly
576
Arg
|
details |
homologous mutations |
1 |
2 |
3 |
D |
N |
? |
CL3,NBD1 |
p.Tyr
577
Phe
|
details |
homologous mutations |
5 |
13 |
13 |
N |
N |
|
CL3,NBD1 |
p.Tyr
577
His
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
CL3,NBD1 |
p.Tyr
577
Lys
|
details |
homologous mutations |
1 |
7 |
7 |
D |
N |
? |
CL3,NBD1 |
p.Tyr
577
Glu
|
details |
homologous mutations |
1 |
5 |
5 |
D |
N |
? |
CL3,NBD1 |
p.Asp
579
Gly
|
details |
homologous mutations |
26 |
54 |
63 |
D |
D |
|
CL3,NBD1 |
p.Leu
581
Phe
|
details |
homologous mutations |
1 |
36 |
67 |
N |
N |
? |
CL3,NBD1 |
p.Thr
582
Ala
|
details |
homologous mutations |
3 |
16 |
17 |
N |
N |
? |
CL3,NBD1 |
p.Thr
582
Arg
|
details |
homologous mutations |
8 |
19 |
21 |
D |
D |
|
CL3,NBD1 |
p.Thr
582
Ser
|
details |
homologous mutations |
1 |
1 |
1 |
N |
D |
|
CL3,NBD1 |
p.Thr
582
Ile
|
details |
homologous mutations |
3 |
4 |
4 |
N |
N |
|
CL3,NBD1 |
p.Glu
583
Gly
|
details |
homologous mutations |
1 |
4 |
5 |
N |
N |
? |
CL3,NBD1 |
p.Lys
584
Glu
|
details |
homologous mutations |
1 |
68 |
95 |
D |
N |
? |
CL3,NBD1 |
p.Glu
585
*
|
details |
homologous mutations |
46 |
83 |
85 |
- |
- |
D |
CL3,NBD1 |
p.Glu
585
Gln
|
details |
homologous mutations |
1 |
4 |
4 |
N |
N |
D |
CL3,NBD1 |
p.Ile
586
Val
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
CL3,NBD1 |
p.Phe
587
Ile
|
details |
homologous mutations |
2 |
2 |
2 |
N |
D |
? |
CL3,NBD1 |
p.Glu
588
Val
|
details |
homologous mutations |
3 |
19 |
26 |
D |
D |
|
CL3,NBD1 |
p.Ser
589
Asn
|
details |
homologous mutations |
3 |
9 |
11 |
N |
N |
|
CL3,NBD1 |
p.Ser
589
Ile
|
details |
homologous mutations |
3 |
11 |
12 |
N |
D |
|
CL3,NBD1 |
p.Ser
589
Thr
|
details |
homologous mutations |
1 |
|