Mutations in ABCC1
reference sequence
Region |
Mutation |
|
|
Publications |
Sentences |
MutMiner_hits |
SNAP2 |
PROVEAN |
Effect_ExpVar |
ELa |
p.Leu
3
Arg
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
ELa |
p.Gly
5
Glu
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
ELa |
p.Cys
7
Ala
|
details |
homologous mutations |
3 |
6 |
6 |
D |
D |
? |
ELa |
p.Gly
11
Asp
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
ELa |
p.Pro
14
Ala
|
details |
homologous mutations |
1 |
2 |
2 |
N |
N |
? |
ELa |
p.Pro
14
Arg
|
details |
homologous mutations |
1 |
2 |
2 |
N |
N |
? |
ELa |
p.Asn
19
Gln
|
details |
homologous mutations |
2 |
13 |
27 |
D |
D |
? |
ELa |
p.Val
20
Cys
|
details |
homologous mutations |
2 |
15 |
20 |
N |
N |
? |
ELa |
p.Asn
23
Gln
|
details |
homologous mutations |
1 |
10 |
16 |
N |
N |
? |
ELa |
p.Thr
24
Met
|
details |
homologous mutations |
1 |
8 |
8 |
D |
D |
? |
ELa |
p.Thr
24
Ser
|
details |
homologous mutations |
1 |
2 |
2 |
N |
N |
? |
ELa |
p.Lys
31
Ala
|
details |
homologous mutations |
2 |
9 |
9 |
N |
N |
? |
ELa |
p.Cys
32
Ala
|
details |
homologous mutations |
4 |
34 |
37 |
D |
D |
? |
ELa |
p.Asn
35
Thr
|
details |
homologous mutations |
1 |
2 |
2 |
N |
D |
? |
TMD0,THa |
p.Trp
40
Ala
|
details |
homologous mutations |
1 |
3 |
3 |
D |
D |
? |
TMD0,THa |
p.Pro
42
Ala
|
details |
homologous mutations |
2 |
13 |
14 |
D |
D |
? |
TMD0,THa |
p.Cys
43
Ser
|
details |
homologous mutations |
22 |
117 |
126 |
D |
D |
? |
TMD0,THa |
p.Cys
43
Ala
|
details |
homologous mutations |
1 |
13 |
13 |
D |
D |
? |
TMD0,THa |
p.Trp
47
Ala
|
details |
homologous mutations |
1 |
3 |
3 |
N |
D |
? |
TMD0,THa |
p.Cys
49
Ala
|
details |
homologous mutations |
1 |
10 |
10 |
N |
N |
? |
TMD0,THa |
p.Cys
49
Ser
|
details |
homologous mutations |
1 |
9 |
10 |
N |
N |
? |
TMD0,THa |
p.Cys
49
Gly
|
details |
homologous mutations |
1 |
1 |
1 |
N |
D |
? |
TMD0,THa |
p.Pro
51
Ala
|
details |
homologous mutations |
2 |
13 |
15 |
N |
D |
? |
TMD0,THa |
p.Phe
52
Cys
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
TMD0,CLa |
p.Asp
61
Glu
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
TMD0,CLa |
p.Pro
69
Ala
|
details |
homologous mutations |
1 |
9 |
10 |
N |
N |
? |
TMD0,CLa |
p.Asn
71
Gln
|
details |
homologous mutations |
1 |
8 |
9 |
N |
D |
? |
TMD0,CLa |
p.Thr
73
Ile
|
details |
homologous mutations |
17 |
60 |
61 |
D |
N |
? |
TMD0,CLa |
p.Thr
75
Ala
|
details |
homologous mutations |
1 |
2 |
2 |
N |
N |
? |
TMD0,THb |
p.Leu
80
Val
|
details |
homologous mutations |
1 |
4 |
4 |
N |
N |
? |
TMD0,THb |
p.Trp
82
Ala
|
details |
homologous mutations |
1 |
3 |
3 |
N |
D |
? |
TMD0,THb |
p.Cys
85
Ser
|
details |
homologous mutations |
1 |
8 |
8 |
N |
D |
? |
TMD0,THb |
p.Cys
85
Ala
|
details |
homologous mutations |
1 |
7 |
7 |
N |
D |
? |
TMD0,THb |
p.Trp
86
Ala
|
details |
homologous mutations |
1 |
3 |
3 |
N |
D |
? |
TMD0,THb |
p.Asp
88
His
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD0,THb |
p.Asp
88
Val
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD0,THb |
p.Asp
88
Phe
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
TMD0,THb |
p.Ser
92
Phe
|
details |
homologous mutations |
11 |
40 |
45 |
N |
D |
? |
TMD0,THb |
p.Phe
93
Trp
|
details |
homologous mutations |
2 |
28 |
33 |
D |
D |
? |
TMD0,THb |
p.Trp
94
Ala
|
details |
homologous mutations |
1 |
3 |
3 |
N |
D |
? |
TMD0,ELb |
p.Ser
97
Pro
|
details |
homologous mutations |
1 |
1 |
1 |
N |
D |
? |
TMD0,ELb |
p.Leu
102
Trp
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
TMD0,ELb |
p.Pro
104
Ala
|
details |
homologous mutations |
1 |
3 |
4 |
N |
D |
? |
TMD0,THc |
p.Val
105
Ile
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
TMD0,THc |
p.Val
108
Ile
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
TMD0,THc |
p.Pro
110
Ala
|
details |
homologous mutations |
1 |
9 |
10 |
N |
D |
? |
TMD0,THd |
p.Thr
140
Met
|
details |
homologous mutations |
1 |
4 |
4 |
N |
N |
? |
TMD0,THd |
p.Trp
142
Ala
|
details |
homologous mutations |
1 |
5 |
5 |
D |
D |
? |
TMD0,THd |
p.Trp
142
Phe
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD0,THd |
p.Cys
148
Ala
|
details |
homologous mutations |
1 |
6 |
6 |
N |
D |
? |
TMD0,THd |
p.Cys
148
Ser
|
details |
homologous mutations |
2 |
7 |
7 |
N |
D |
? |
TMD0,THd |
p.Ala
149
Ser
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
TMD0,THd |
p.Ile
152
Leu
|
details |
homologous mutations |
1 |
3 |
3 |
N |
N |
? |
TMD0,THe |
p.Cys
190
Ala
|
details |
homologous mutations |
1 |
6 |
7 |
N |
D |
? |
TMD0,THe |
p.Cys
190
Ser
|
details |
homologous mutations |
1 |
8 |
8 |
N |
D |
? |
TMD0,THe |
p.Cys
190
Thr
|
details |
homologous mutations |
1 |
1 |
2 |
N |
D |
? |
CL0 |
p.Pro
196
Ala
|
details |
homologous mutations |
2 |
13 |
15 |
D |
D |
? |
CL0 |
p.Ser
199
Leu
|
details |
homologous mutations |
1 |
6 |
6 |
N |
D |
|
CL0 |
p.Pro
205
Ala
|
details |
homologous mutations |
1 |
3 |
3 |
N |
N |
? |
CL0 |
p.Pro
207
Ala
|
details |
homologous mutations |
1 |
4 |
5 |
D |
D |
? |
CL0 |
p.Cys
208
Ala
|
details |
homologous mutations |
2 |
12 |
15 |
N |
D |
? |
CL0 |
p.Cys
208
Ser
|
details |
homologous mutations |
1 |
8 |
9 |
N |
D |
? |
CL0,L0 |
p.Pro
209
Ala
|
details |
homologous mutations |
1 |
4 |
5 |
D |
D |
? |
CL0,L0 |
p.Trp
222
Leu
|
details |
homologous mutations |
3 |
6 |
6 |
N |
D |
? |
CL0,L0 |
p.Trp
223
Leu
|
details |
homologous mutations |
3 |
6 |
6 |
D |
D |
? |
CL0,L0 |
p.Arg
230
Gln
|
details |
homologous mutations |
9 |
24 |
27 |
N |
N |
? |
CL0,L0 |
p.Arg
230
Ala
|
details |
homologous mutations |
2 |
5 |
5 |
N |
N |
? |
CL0,L0 |
p.Arg
230
Asn
|
details |
homologous mutations |
3 |
3 |
3 |
N |
N |
? |
CL0,L0 |
p.Pro
235
Ala
|
details |
homologous mutations |
1 |
20 |
23 |
D |
D |
? |
CL0,L0 |
p.Trp
242
Cys
|
details |
homologous mutations |
1 |
6 |
6 |
D |
D |
? |
CL0,L0 |
p.Asp
248
Trp
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
CL0,L0 |
p.Thr
249
Glu
|
details |
homologous mutations |
1 |
36 |
48 |
N |
N |
? |
CL0,L0 |
p.Thr
249
Ala
|
details |
homologous mutations |
1 |
55 |
75 |
N |
N |
? |
CL0,L0 |
p.Ser
250
Ala
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
CL0,L0 |
p.Pro
255
Ala
|
details |
homologous mutations |
1 |
29 |
43 |
N |
D |
? |
CL0,L0 |
p.Trp
261
Ala
|
details |
homologous mutations |
4 |
8 |
8 |
D |
D |
? |
CL0,L0 |
p.Cys
265
Ser
|
details |
homologous mutations |
2 |
24 |
24 |
N |
D |
? |
CL0,L0 |
p.Cys
265
Ala
|
details |
homologous mutations |
3 |
21 |
23 |
N |
N |
? |
CL0 |
p.Lys
267
Met
|
details |
homologous mutations |
4 |
7 |
7 |
N |
D |
? |
CL0 |
p.Lys
267
Ala
|
details |
homologous mutations |
1 |
1 |
1 |
N |
D |
? |
CL0 |
p.Lys
270
Arg
|
details |
homologous mutations |
1 |
2 |
2 |
N |
N |
? |
CL0 |
p.Pro
272
Ala
|
details |
homologous mutations |
1 |
6 |
7 |
N |
N |
? |
CL0 |
p.Pro
272
Ser
|
details |
homologous mutations |
1 |
3 |
3 |
N |
N |
? |
CL0 |
p.Asp
281
Gly
|
details |
homologous mutations |
3 |
6 |
6 |
N |
N |
? |
CL0 |
p.Ser
288
Cys
|
details |
homologous mutations |
3 |
17 |
18 |
N |
D |
? |
CL0 |
p.Glu
298
Asp
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
CL0 |
p.Leu
300
Ala
|
details |
homologous mutations |
1 |
12 |
12 |
N |
D |
? |
CL0 |
p.Ile
301
Ala
|
details |
homologous mutations |
1 |
12 |
13 |
N |
N |
? |
CL0 |
p.Lys
319
Asp
|
details |
homologous mutations |
2 |
10 |
11 |
D |
D |
? |
CL0 |
p.Pro
323
Ala
|
details |
homologous mutations |
1 |
10 |
10 |
N |
D |
? |
CL0 |
p.Tyr
324
Ala
|
details |
homologous mutations |
1 |
3 |
3 |
D |
D |
? |
CL0 |
p.Tyr
324
Trp
|
details |
homologous mutations |
1 |
2 |
2 |
N |
D |
? |
CL0 |
p.Tyr
324
Phe
|
details |
homologous mutations |
1 |
3 |
3 |
N |
N |
? |
TMD1,TH1 |
p.Lys
332
Asp
|
details |
homologous mutations |
6 |
34 |
36 |
D |
D |
? |
TMD1,TH1 |
p.Lys
332
Leu
|
details |
homologous mutations |
8 |
93 |
99 |
N |
D |
? |
TMD1,TH1 |
p.Lys
332
Arg
|
details |
homologous mutations |
3 |
18 |
20 |
N |
N |
? |
TMD1,TH1 |
p.His
335
Glu
|
details |
homologous mutations |
1 |
14 |
14 |
D |
D |
? |
TMD1,TH1 |
p.His
335
Leu
|
details |
homologous mutations |
1 |
15 |
15 |
D |
D |
? |
TMD1,TH1 |
p.His
335
Gln
|
details |
homologous mutations |
1 |
14 |
14 |
N |
N |
? |
TMD1,TH1 |
p.His
335
Asp
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD1,TH1 |
p.Asp
336
Arg
|
details |
homologous mutations |
2 |
15 |
15 |
D |
D |
? |
TMD1,TH1 |
p.Asp
336
Leu
|
details |
homologous mutations |
2 |
14 |
16 |
D |
D |
? |
TMD1,TH1 |
p.Asp
336
Glu
|
details |
homologous mutations |
1 |
4 |
4 |
D |
D |
? |
TMD1,TH1 |
p.Asp
336
Lys
|
details |
homologous mutations |
2 |
16 |
19 |
D |
D |
? |
TMD1,TH1 |
p.Pro
343
Ala
|
details |
homologous mutations |
3 |
17 |
17 |
D |
D |
? |
TMD1,TH1 |
p.Lys
347
Asp
|
details |
homologous mutations |
2 |
10 |
11 |
N |
D |
? |
TMD1,TH1 |
p.Lys
347
Leu
|
details |
homologous mutations |
1 |
4 |
4 |
N |
D |
? |
TMD1,EL1 |
p.Lys
351
Asn
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
TMD1,EL1 |
p.Val
353
Met
|
details |
homologous mutations |
9 |
16 |
17 |
N |
N |
? |
TMD1,EL1 |
p.Pro
359
Ala
|
details |
homologous mutations |
1 |
8 |
8 |
D |
D |
? |
TMD1,EL1 |
p.Asp
360
Lys
|
details |
homologous mutations |
1 |
3 |
3 |
N |
N |
? |
TMD1,EL1 |
p.Trp
361
Ala
|
details |
homologous mutations |
2 |
12 |
12 |
D |
D |
? |
TMD1,TH2 |
p.Leu
370
Val
|
details |
homologous mutations |
1 |
4 |
4 |
D |
N |
? |
TMD1,TH2 |
p.Cys
375
Ala
|
details |
homologous mutations |
1 |
1 |
2 |
N |
N |
? |
TMD1,CL1 |
p.Cys
388
Ala
|
details |
homologous mutations |
1 |
1 |
2 |
N |
D |
? |
TMD1,CL1 |
p.Cys
388
Ser
|
details |
homologous mutations |
1 |
2 |
2 |
N |
D |
? |
TMD1,CL1 |
p.Cys
388
Val
|
details |
homologous mutations |
1 |
3 |
6 |
N |
D |
? |
TMD1,CL1 |
p.Cys
388
Ile
|
details |
homologous mutations |
1 |
2 |
2 |
N |
D |
? |
TMD1,CL1 |
p.Cys
388
Asn
|
details |
homologous mutations |
1 |
2 |
4 |
D |
D |
? |
TMD1,CL1 |
p.Cys
388
Met
|
details |
homologous mutations |
1 |
2 |
2 |
N |
D |
? |
TMD1,CL1 |
p.Cys
388
Gly
|
details |
homologous mutations |
1 |
2 |
2 |
N |
D |
? |
TMD1,CL1 |
p.Cys
388
Asp
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
TMD1,CL1 |
p.Gly
392
Arg
|
details |
homologous mutations |
1 |
4 |
4 |
D |
D |
? |
TMD1,CL1 |
p.Gly
392
Ala
|
details |
homologous mutations |
1 |
4 |
4 |
D |
D |
? |
TMD1,CL1 |
p.Gly
392
Asn
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD1,CL1 |
p.Arg
394
Asp
|
details |
homologous mutations |
1 |
3 |
3 |
D |
D |
? |
TMD1,CL1 |
p.Arg
394
Ile
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
TMD1,CL1 |
p.Lys
396
Glu
|
details |
homologous mutations |
1 |
14 |
14 |
D |
N |
? |
TMD1,CL1 |
p.Lys
396
Ile
|
details |
homologous mutations |
1 |
6 |
6 |
D |
D |
? |
TMD1,CL1 |
p.Ile
400
Thr
|
details |
homologous mutations |
1 |
6 |
6 |
N |
D |
? |
TMD1,CL1 |
p.Gly
421
Ala
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD1,CL1 |
p.Asp
430
Lys
|
details |
homologous mutations |
1 |
5 |
6 |
D |
D |
? |
TMD1,CL1 |
p.Asp
430
Arg
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD1,CL1 |
p.Arg
433
Ser
|
details |
homologous mutations |
38 |
130 |
163 |
D |
D |
? |
TMD1,CL1 |
p.Asp
436
Lys
|
details |
homologous mutations |
1 |
18 |
20 |
D |
D |
? |
TMD1,CL1 |
p.Tyr
440
Phe
|
details |
homologous mutations |
2 |
42 |
52 |
N |
N |
? |
TMD1,CL1 |
p.Tyr
440
Gln
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
TMD1,CL1 |
p.Tyr
440
Ser
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD1,CL1 |
p.Tyr
440
Trp
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD1,CL1 |
p.Tyr
440
Glu
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD1,CL1 |
p.Tyr
440
Ala
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD1,TH3 |
p.Ile
441
Leu
|
details |
homologous mutations |
2 |
20 |
29 |
N |
N |
? |
TMD1,TH3 |
p.Met
443
Leu
|
details |
homologous mutations |
2 |
12 |
13 |
N |
N |
? |
TMD1,TH3 |
p.Trp
445
Phe
|
details |
homologous mutations |
1 |
5 |
5 |
D |
D |
? |
TMD1,TH3 |
p.Trp
445
Ala
|
details |
homologous mutations |
5 |
25 |
26 |
D |
D |
? |
TMD1,TH3 |
p.Trp
445
Tyr
|
details |
homologous mutations |
1 |
7 |
7 |
D |
D |
? |
TMD1,TH3 |
p.Pro
448
Ala
|
details |
homologous mutations |
3 |
17 |
17 |
D |
D |
? |
TMD1,TH3 |
p.Ala
454
Gly
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD1,TH3 |
p.Trp
459
Ala
|
details |
homologous mutations |
1 |
10 |
10 |
D |
D |
? |
TMD1,TH4 |
p.Pro
464
Ala
|
details |
homologous mutations |
1 |
8 |
8 |
N |
D |
? |
TMD1,TH4 |
p.Pro
478
Ala
|
details |
homologous mutations |
1 |
18 |
18 |
N |
D |
? |
TMD1,TH4 |
p.Val
479
Leu
|
details |
homologous mutations |
1 |
1 |
3 |
N |
N |
? |
TMD1,TH4 |
p.Ala
481
Gly
|
details |
homologous mutations |
1 |
2 |
5 |
N |
N |
? |
TMD1,TH4 |
p.Val
482
Ala
|
details |
homologous mutations |
1 |
2 |
5 |
N |
N |
? |
TMD1,CL2 |
p.Met
483
Val
|
details |
homologous mutations |
1 |
1 |
4 |
N |
N |
? |
TMD1,CL2 |
p.Met
485
Val
|
details |
homologous mutations |
1 |
1 |
3 |
N |
N |
? |
TMD1,CL2 |
p.Thr
487
Met
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
TMD1,CL2 |
p.Lys
488
Arg
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
TMD1,CL2 |
p.Thr
489
Ala
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
TMD1,CL2 |
p.Tyr
490
Phe
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
TMD1,CL2 |
p.Ala
493
Lys
|
details |
homologous mutations |
1 |
1 |
3 |
N |
N |
? |
TMD1,CL2 |
p.His
494
Gln
|
details |
homologous mutations |
1 |
1 |
3 |
N |
N |
? |
TMD1,CL2 |
p.Ser
497
Leu
|
details |
homologous mutations |
1 |
1 |
3 |
N |
N |
? |
TMD1,CL2 |
p.Lys
498
Glu
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD1,CL2 |
p.Asn
500
Ser
|
details |
homologous mutations |
1 |
1 |
3 |
N |
N |
? |
TMD1,CL2 |
p.Arg
501
Ala
|
details |
homologous mutations |
2 |
16 |
17 |
D |
D |
? |
TMD1,CL2 |
p.Lys
503
Ala
|
details |
homologous mutations |
1 |
8 |
8 |
D |
D |
? |
TMD1,CL2 |
p.Asn
506
Ser
|
details |
homologous mutations |
1 |
1 |
2 |
N |
D |
? |
TMD1,CL2 |
p.Glu
507
Leu
|
details |
homologous mutations |
3 |
6 |
8 |
D |
D |
? |
TMD1,CL2 |
p.Glu
507
Ala
|
details |
homologous mutations |
1 |
21 |
22 |
D |
D |
? |
TMD1,CL2 |
p.Gly
511
Pro
|
details |
homologous mutations |
3 |
6 |
8 |
D |
D |
? |
TMD1,CL2 |
p.Gly
511
Ile
|
details |
homologous mutations |
1 |
26 |
28 |
D |
D |
? |
TMD1,CL2 |
p.Lys
513
Ala
|
details |
homologous mutations |
3 |
105 |
118 |
D |
D |
? |
TMD1,CL2 |
p.Lys
513
Arg
|
details |
homologous mutations |
2 |
5 |
5 |
D |
D |
? |
TMD1,CL2 |
p.Lys
516
Arg
|
details |
homologous mutations |
2 |
5 |
5 |
D |
D |
? |
TMD1,CL2 |
p.Lys
516
Ala
|
details |
homologous mutations |
3 |
84 |
93 |
D |
D |
? |
TMD1,CL2 |
p.Glu
521
Ala
|
details |
homologous mutations |
3 |
75 |
83 |
D |
D |
? |
TMD1,CL2 |
p.Glu
521
Asp
|
details |
homologous mutations |
1 |
3 |
3 |
D |
D |
? |
TMD1,CL2 |
p.Glu
521
His
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD1,CL2 |
p.Arg
532
Ala
|
details |
homologous mutations |
1 |
14 |
15 |
D |
D |
? |
TMD1,CL2 |
p.Glu
535
Asp
|
details |
homologous mutations |
1 |
4 |
4 |
D |
D |
? |
TMD1,CL2 |
p.Glu
535
Ala
|
details |
homologous mutations |
3 |
77 |
88 |
D |
D |
? |
TMD1,CL2 |
p.Lys
540
Glu
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD1,TH5 |
p.Thr
550
Ala
|
details |
homologous mutations |
4 |
11 |
11 |
N |
N |
? |
TMD1,TH5 |
p.Thr
552
Ala
|
details |
homologous mutations |
1 |
2 |
2 |
N |
N |
? |
TMD1,TH5 |
p.Trp
553
Phe
|
details |
homologous mutations |
1 |
4 |
4 |
N |
D |
? |
TMD1,TH5 |
p.Trp
553
Ala
|
details |
homologous mutations |
3 |
19 |
20 |
D |
D |
? |
TMD1,TH5 |
p.Trp
553
Tyr
|
details |
homologous mutations |
1 |
4 |
4 |
D |
D |
? |
TMD1,TH5 |
p.Cys
555
Ser
|
details |
homologous mutations |
1 |
1 |
1 |
N |
D |
? |
TMD1,TH5 |
p.Cys
555
Ala
|
details |
homologous mutations |
1 |
1 |
2 |
N |
D |
? |
TMD1,TH5 |
p.Thr
556
Ala
|
details |
homologous mutations |
5 |
10 |
10 |
N |
N |
? |
TMD1,TH5 |
p.Pro
557
Ala
|
details |
homologous mutations |
5 |
19 |
19 |
D |
D |
? |
TMD1,TH5 |
p.Cys
563
Ser
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
TMD1,TH5 |
p.Cys
563
Ala
|
details |
homologous mutations |
1 |
1 |
2 |
N |
N |
? |
TMD1,TH5 |
p.Thr
564
Ala
|
details |
homologous mutations |
1 |
1 |
1 |
N |
D |
? |
TMD1,TH5 |
p.Phe
565
Leu
|
details |
homologous mutations |
2 |
26 |
29 |
N |
D |
? |
TMD1,TH5 |
p.Phe
565
Ser
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
TMD1,TH5 |
p.Phe
565
Ala
|
details |
homologous mutations |
1 |
4 |
4 |
D |
D |
? |
TMD1,EL3 |
p.Tyr
568
Ala
|
details |
homologous mutations |
2 |
13 |
13 |
D |
D |
? |
TMD1,EL3 |
p.Tyr
568
Ser
|
details |
homologous mutations |
1 |
5 |
5 |
D |
D |
? |
TMD1,EL3 |
p.Tyr
568
Trp
|
details |
homologous mutations |
1 |
4 |
4 |
D |
D |
? |
TMD1,EL3 |
p.Tyr
568
Phe
|
details |
homologous mutations |
1 |
4 |
4 |
N |
D |
? |
TMD1,EL3 |
p.Thr
570
Ala
|
details |
homologous mutations |
1 |
2 |
2 |
N |
N |
? |
TMD1,EL3 |
p.Asp
572
Arg
|
details |
homologous mutations |
1 |
3 |
3 |
D |
D |
? |
TMD1,EL3 |
p.Asp
572
Asn
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD1,EL3 |
p.Glu
573
Arg
|
details |
homologous mutations |
1 |
3 |
3 |
N |
D |
? |
TMD1,EL3 |
p.Asp
578
Arg
|
details |
homologous mutations |
1 |
3 |
3 |
D |
D |
? |
TMD1,EL3 |
p.Gln
580
Ala
|
details |
homologous mutations |
1 |
6 |
6 |
D |
D |
? |
TMD1,EL3 |
p.Thr
581
Ala
|
details |
homologous mutations |
1 |
6 |
6 |
D |
N |
? |
TMD1,TH6 |
p.Ser
585
Ala
|
details |
homologous mutations |
1 |
6 |
6 |
D |
D |
? |
TMD1,TH6 |
p.Ala
587
Val
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
TMD1,TH6 |
p.Asn
590
Ala
|
details |
homologous mutations |
5 |
42 |
46 |
D |
D |
? |
TMD1,TH6 |
p.Asn
590
Gln
|
details |
homologous mutations |
1 |
6 |
7 |
D |
D |
? |
TMD1,TH6 |
p.Asn
590
Asp
|
details |
homologous mutations |
1 |
6 |
6 |
D |
D |
? |
TMD1,TH6 |
p.Arg
593
Leu
|
details |
homologous mutations |
1 |
6 |
6 |
D |
D |
? |
TMD1,TH6 |
p.Arg
593
Glu
|
details |
homologous mutations |
1 |
14 |
14 |
D |
D |
? |
TMD1,TH6 |
p.Arg
593
Lys
|
details |
homologous mutations |
1 |
1 |
1 |
D |
N |
? |
TMD1,TH6 |
p.Phe
594
Ala
|
details |
homologous mutations |
8 |
20 |
21 |
D |
D |
? |
TMD1,TH6 |
p.Phe
594
Trp
|
details |
homologous mutations |
4 |
17 |
18 |
D |
D |
? |
TMD1,TH6 |
p.Phe
594
Tyr
|
details |
homologous mutations |
5 |
18 |
19 |
N |
N |
? |
TMD1,TH6 |
p.Pro
595
Ala
|
details |
homologous mutations |
3 |
21 |
21 |
D |
D |
? |
TMD1,TH6 |
p.Asn
597
Ala
|
details |
homologous mutations |
3 |
12 |
12 |
D |
D |
? |
CL3 |
p.Pro
600
Ala
|
details |
homologous mutations |
1 |
8 |
8 |
D |
D |
? |
CL3 |
p.Ser
604
Ala
|
details |
homologous mutations |
3 |
17 |
24 |
D |
N |
? |
CL3 |
p.Ser
604
Thr
|
details |
homologous mutations |
1 |
7 |
7 |
D |
N |
? |
CL3 |
p.Ser
605
Ala
|
details |
homologous mutations |
4 |
13 |
13 |
D |
N |
? |
CL3 |
p.Glu
631
Gln
|
details |
homologous mutations |
2 |
2 |
2 |
N |
N |
? |
CL3 |
p.Arg
633
Gln
|
details |
homologous mutations |
13 |
45 |
49 |
N |
N |
? |
CL3,NBD1 |
p.Trp
653
Tyr
|
details |
homologous mutations |
2 |
41 |
53 |
D |
D |
? |
CL3,NBD1 |
p.Trp
653
Cys
|
details |
homologous mutations |
4 |
21 |
52 |
D |
D |
? |
CL3,NBD1 |
p.Ser
656
Thr
|
details |
homologous mutations |
1 |
5 |
5 |
N |
N |
? |
CL3,NBD1 |
p.Pro
659
Ala
|
details |
homologous mutations |
1 |
1 |
1 |
N |
D |
? |
CL3,NBD1 |
p.Gly
663
Val
|
details |
homologous mutations |
1 |
9 |
9 |
D |
D |
? |
CL3,NBD1 |
p.Thr
665
Ser
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
CL3,NBD1 |
p.Pro
669
Ala
|
details |
homologous mutations |
1 |
1 |
1 |
N |
D |
? |
CL3,NBD1 |
p.Gly
671
Val
|
details |
homologous mutations |
35 |
166 |
195 |
D |
D |
? |
CL3,NBD1 |
p.Val
674
Ala
|
details |
homologous mutations |
1 |
1 |
1 |
N |
D |
? |
CL3,NBD1,WA1 |
p.Val
680
Thr
|
details |
homologous mutations |
1 |
5 |
5 |
D |
D |
? |
CL3,NBD1,WA1 |
p.Gly
681
Ala
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
CL3,NBD1,WA1 |
p.Cys
682
Ala
|
details |
homologous mutations |
2 |
2 |
3 |
N |
D |
? |
CL3,NBD1,WA1 |
p.Lys
684
Met
|
details |
homologous mutations |
6 |
42 |
50 |
D |
D |
? |
CL3,NBD1,WA1 |
p.Lys
684
Leu
|
details |
homologous mutations |
7 |
80 |
96 |
D |
D |
? |
CL3,NBD1,WA1 |
p.Lys
684
Arg
|
details |
homologous mutations |
4 |
12 |
12 |
D |
D |
? |
CL3,NBD1,WA1 |
p.Lys
684
Glu
|
details |
homologous mutations |
4 |
10 |
10 |
D |
D |
? |
CL3,NBD1,WA1 |
p.Ser
685
Thr
|
details |
homologous mutations |
1 |
25 |
31 |
D |
N |
? |
CL3,NBD1,WA1 |
p.Ser
685
Cys
|
details |
homologous mutations |
1 |
15 |
18 |
D |
D |
? |
CL3,NBD1,WA1 |
p.Ser
685
Ala
|
details |
homologous mutations |
1 |
32 |
36 |
D |
D |
? |
CL3,NBD1,WA1 |
p.Ser
685
His
|
details |
homologous mutations |
1 |
14 |
18 |
D |
D |
? |
CL3,NBD1,WA1 |
p.Ser
685
Asn
|
details |
homologous mutations |
1 |
14 |
15 |
D |
D |
? |
CL3,NBD1,WA1 |
p.Ser
685
Asp
|
details |
homologous mutations |
1 |
24 |
40 |
D |
D |
? |
CL3,NBD1 |
p.Asp
696
Gly
|
details |
homologous mutations |
1 |
4 |
4 |
N |
D |
? |
CL3,NBD1 |
p.Gln
713
Met
|
details |
homologous mutations |
1 |
13 |
17 |
D |
D |
? |
CL3,NBD1 |
p.Gln
713
Leu
|
details |
homologous mutations |
1 |
14 |
17 |
D |
D |
? |
CL3,NBD1 |
p.Gln
713
Asn
|
details |
homologous mutations |
1 |
15 |
18 |
D |
D |
? |
CL3,NBD1 |
p.Asp
720
Asn
|
details |
homologous mutations |
1 |
1 |
1 |
D |
N |
? |
CL3,NBD1 |
p.Arg
723
Gln
|
details |
homologous mutations |
25 |
149 |
163 |
D |
N |
|
CL3,NBD1 |
p.Phe
728
Cys
|
details |
homologous mutations |
2 |
2 |
2 |
D |
D |
? |
CL3,NBD1 |
p.Cys
730
Ala
|
details |
homologous mutations |
1 |
1 |
2 |
N |
N |
? |
CL3,NBD1 |
p.Cys
744
Ala
|
details |
homologous mutations |
1 |
1 |
2 |
N |
D |
? |
CL3,NBD1 |
p.Gly
756
Asp
|
details |
homologous mutations |
3 |
24 |
25 |
D |
D |
? |
CL3,NBD1 |
p.Gly
756
Ser
|
details |
homologous mutations |
1 |
4 |
4 |
D |
D |
? |
CL3,NBD1,SIG1 |
p.Leu
768
Arg
|
details |
homologous mutations |
3 |
8 |
8 |
D |
D |
? |
CL3,NBD1,SIG1 |
p.Gly
771
Asp
|
details |
homologous mutations |
10 |
59 |
62 |
D |
D |
? |
CL3,NBD1,SIG1 |
p.Gly
771
Ala
|
details |
homologous mutations |
5 |
16 |
16 |
D |
D |
? |
CL3,NBD1,SIG1 |
p.Val
782
Ile
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
CL3,NBD1,WB1 |
p.Asp
792
Leu
|
details |
homologous mutations |
4 |
54 |
81 |
D |
D |
? |
CL3,NBD1,WB1 |
p.Asp
792
Ala
|
details |
homologous mutations |
5 |
43 |
46 |
D |
D |
? |
CL3,NBD1,WB1 |
p.Asp
792
Glu
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
CL3,NBD1,WB1 |
p.Asp
792
Asn
|
details |
homologous mutations |
3 |
14 |
14 |
D |
D |
? |
CL3,NBD1,WB1 |
p.Asp
792
Ser
|
details |
homologous mutations |
1 |
22 |
37 |
D |
D |
? |
CL3,NBD1 |
p.Asp
793
Leu
|
details |
homologous mutations |
4 |
79 |
103 |
D |
D |
? |
CL3,NBD1 |
p.Asp
793
Glu
|
details |
homologous mutations |
7 |
164 |
209 |
D |
D |
? |
CL3,NBD1 |
p.Asp
793
Asn
|
details |
homologous mutations |
3 |
52 |
61 |
D |
D |
? |
CL3,NBD1 |
p.Asp
793
Gln
|
details |
homologous mutations |
1 |
12 |
12 |
D |
D |
? |
CL3,NBD1 |
p.Asp
793
Ser
|
details |
homologous mutations |
1 |
11 |
11 |
D |
D |
? |
CL3,NBD1 |
p.Pro
794
Ala
|
details |
homologous mutations |
1 |
50 |
52 |
D |
D |
? |
CL3,NBD1 |
p.Pro
794
Asp
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
CL3,NBD1 |
p.His
827
Phe
|
details |
homologous mutations |
2 |
19 |
30 |
D |
D |
? |
CL3,NBD1 |
p.His
827
Leu
|
details |
homologous mutations |
2 |
19 |
33 |
D |
D |
? |
CL3,NBD1 |
p.His
827
Tyr
|
details |
homologous mutations |
1 |
4 |
8 |
D |
D |
? |
CL3,NBD1 |
p.His
827
Trp
|
details |
homologous mutations |
1 |
4 |
8 |
D |
D |
? |
CL3,NBD1 |
p.His
827
Gln
|
details |
homologous mutations |
1 |
4 |
8 |
D |
D |
? |
CL3,NBD1 |
p.His
827
Asn
|
details |
homologous mutations |
1 |
4 |
8 |
D |
D |
? |
CL3,NBD1 |
p.His
827
Asp
|
details |
homologous mutations |
1 |
4 |
8 |
D |
D |
? |
CL3,NBD1 |
p.His
827
Glu
|
details |
homologous mutations |
1 |
4 |
8 |
D |
D |
? |
CL3,NBD1 |
p.Gln
834
His
|
details |
homologous mutations |
1 |
2 |
2 |
N |
D |
? |
CL3,NBD1 |
p.Gly
844
Ser
|
details |
homologous mutations |
1 |
6 |
6 |
D |
D |
? |
CL3,NBD1 |
p.Met
849
Ile
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
CL3,NBD1 |
p.Ala
861
Thr
|
details |
homologous mutations |
3 |
3 |
3 |
D |
D |
? |
CL3 |
p.Thr
884
Met
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
CL3 |
p.Ala
893
Ser
|
details |
homologous mutations |
51 |
93 |
94 |
N |
N |
? |
CL3 |
p.Ala
893
Thr
|
details |
homologous mutations |
25 |
36 |
36 |
N |
N |
? |
CL3 |
p.Ala
893
Pro
|
details |
homologous mutations |
3 |
17 |
17 |
N |
N |
? |
CL3 |
p.Ala
953
Cys
|
details |
homologous mutations |
1 |
1 |
1 |
N |
D |
? |
CL3 |
p.Lys
959
Arg
|
details |
homologous mutations |
1 |
2 |
2 |
N |
N |
? |
TMD2,TH7 |
p.Cys
984
Ala
|
details |
homologous mutations |
1 |
1 |
2 |
N |
D |
? |
TMD2,TH7 |
p.Ala
989
Thr
|
details |
homologous mutations |
15 |
106 |
116 |
N |
N |
? |
TMD2,EL4 |
p.Pro
1003
Ala
|
details |
homologous mutations |
1 |
7 |
7 |
N |
D |
? |
TMD2,EL4 |
p.Asn
1006
Gln
|
details |
homologous mutations |
1 |
9 |
17 |
D |
D |
? |
TMD2,TH8 |
p.Ala
1021
Thr
|
details |
homologous mutations |
1 |
10 |
12 |
N |
D |
? |
TMD2,TH8 |
p.Ala
1021
Val
|
details |
homologous mutations |
1 |
10 |
13 |
N |
D |
? |
TMD2,TH8 |
p.Ser
1034
Cys
|
details |
homologous mutations |
3 |
7 |
10 |
D |
D |
? |
TMD2,CL4 |
p.Arg
1046
Asp
|
details |
homologous mutations |
1 |
8 |
8 |
D |
D |
? |
TMD2,CL4 |
p.Cys
1047
Ser
|
details |
homologous mutations |
14 |
78 |
85 |
N |
N |
? |
TMD2,CL4 |
p.Cys
1047
Ala
|
details |
homologous mutations |
1 |
1 |
2 |
N |
N |
? |
TMD2,CL4 |
p.His
1049
Ala
|
details |
homologous mutations |
1 |
6 |
6 |
D |
D |
? |
TMD2,CL4 |
p.Arg
1058
Gln
|
details |
homologous mutations |
15 |
66 |
73 |
D |
D |
? |
TMD2,CL4 |
p.Pro
1060
Ala
|
details |
homologous mutations |
2 |
8 |
10 |
D |
D |
? |
TMD2,CL4 |
p.Arg
1066
*
|
details |
homologous mutations |
1 |
1 |
1 |
- |
- |
? |
TMD2,CL4 |
p.Arg
1066
Trp
|
details |
homologous mutations |
1 |
3 |
3 |
D |
D |
? |
TMD2,CL4 |
p.Pro
1068
Ala
|
details |
homologous mutations |
2 |
10 |
12 |
D |
D |
? |
TMD2,CL4 |
p.Thr
1082
Ala
|
details |
homologous mutations |
1 |
4 |
4 |
N |
N |
? |
TMD2,CL4 |
p.Asp
1084
Val
|
details |
homologous mutations |
1 |
3 |
4 |
D |
D |
? |
TMD2,CL4 |
p.Asp
1084
Asn
|
details |
homologous mutations |
3 |
33 |
39 |
D |
D |
? |
TMD2,CL4 |
p.Asp
1084
Ala
|
details |
homologous mutations |
1 |
4 |
5 |
D |
D |
? |
TMD2,CL4 |
p.Asp
1084
Glu
|
details |
homologous mutations |
2 |
18 |
19 |
D |
D |
? |
TMD2,CL4 |
p.Asp
1084
Arg
|
details |
homologous mutations |
2 |
18 |
19 |
D |
D |
? |
TMD2,CL4 |
p.Ser
1085
Ala
|
details |
homologous mutations |
1 |
4 |
4 |
N |
N |
? |
TMD2,CL4 |
p.Pro
1088
Ala
|
details |
homologous mutations |
1 |
17 |
18 |
N |
D |
? |
TMD2,CL4 |
p.Glu
1089
Gln
|
details |
homologous mutations |
14 |
26 |
27 |
D |
N |
? |
TMD2,CL4 |
p.Glu
1089
Asp
|
details |
homologous mutations |
2 |
7 |
7 |
D |
N |
? |
TMD2,CL4 |
p.Glu
1089
Ala
|
details |
homologous mutations |
3 |
4 |
4 |
D |
N |
? |
TMD2,CL4 |
p.Glu
1089
Asn
|
details |
homologous mutations |
3 |
3 |
3 |
D |
N |
? |
TMD2,CL4 |
p.Glu
1089
Leu
|
details |
homologous mutations |
3 |
3 |
3 |
D |
N |
? |
TMD2,CL4 |
p.Glu
1089
Lys
|
details |
homologous mutations |
3 |
6 |
6 |
D |
N |
? |
TMD2,CL4 |
p.Lys
1092
Arg
|
details |
homologous mutations |
1 |
4 |
4 |
N |
N |
? |
TMD2,CL4 |
p.Lys
1092
Met
|
details |
homologous mutations |
1 |
10 |
10 |
D |
N |
? |
TMD2,CL4 |
p.Lys
1092
Glu
|
details |
homologous mutations |
1 |
4 |
4 |
D |
N |
? |
TMD2,CL4 |
p.Lys
1092
Ala
|
details |
homologous mutations |
1 |
5 |
5 |
D |
D |
? |
TMD2,TH9 |
p.Ser
1097
Ala
|
details |
homologous mutations |
2 |
20 |
23 |
N |
N |
? |
TMD2,TH9 |
p.Asn
1100
Ala
|
details |
homologous mutations |
2 |
17 |
20 |
D |
D |
? |
TMD2,TH9 |
p.Asn
1100
Ser
|
details |
homologous mutations |
1 |
6 |
6 |
N |
N |
? |
TMD2,TH9 |
p.Cys
1105
Ala
|
details |
homologous mutations |
1 |
1 |
2 |
N |
D |
? |
TMD2,TH9 |
p.Pro
1113
Ala
|
details |
homologous mutations |
2 |
24 |
40 |
D |
D |
? |
TMD2,TH10 |
p.Pro
1120
Ala
|
details |
homologous mutations |
1 |
17 |
23 |
N |
N |
? |
TMD2,TH10 |
p.Pro
1121
Ala
|
details |
homologous mutations |
1 |
14 |
19 |
N |
D |
? |
TMD2,TH10 |
p.Arg
1131
Asp
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD2,TH10 |
p.Arg
1131
Glu
|
details |
homologous mutations |
1 |
7 |
7 |
D |
D |
? |
TMD2,CL5 |
p.Ser
1137
Cys
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
TMD2,CL5 |
p.Arg
1138
Lys
|
details |
homologous mutations |
2 |
6 |
6 |
D |
D |
? |
TMD2,CL5 |
p.Arg
1138
Glu
|
details |
homologous mutations |
2 |
12 |
12 |
D |
D |
? |
TMD2,CL5 |
p.Arg
1138
Gln
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD2,CL5 |
p.Lys
1141
Arg
|
details |
homologous mutations |
2 |
11 |
11 |
D |
N |
? |
TMD2,CL5 |
p.Lys
1141
Glu
|
details |
homologous mutations |
3 |
24 |
25 |
D |
D |
? |
TMD2,CL5 |
p.Arg
1142
Glu
|
details |
homologous mutations |
2 |
12 |
12 |
D |
D |
? |
TMD2,CL5 |
p.Arg
1142
Lys
|
details |
homologous mutations |
2 |
8 |
8 |
D |
D |
? |
TMD2,CL5 |
p.Glu
1144
Ala
|
details |
homologous mutations |
2 |
24 |
26 |
N |
D |
? |
TMD2,CL5 |
p.Val
1146
Ile
|
details |
homologous mutations |
3 |
3 |
3 |
D |
N |
? |
TMD2,CL5 |
p.Pro
1150
Ala
|
details |
homologous mutations |
5 |
139 |
147 |
N |
D |
? |
TMD2,CL5 |
p.Pro
1150
Leu
|
details |
homologous mutations |
2 |
5 |
5 |
D |
D |
? |
TMD2,CL5 |
p.Pro
1150
Gly
|
details |
homologous mutations |
2 |
6 |
6 |
D |
D |
? |
TMD2,CL5 |
p.Pro
1150
Val
|
details |
homologous mutations |
2 |
5 |
5 |
D |
D |
? |
TMD2,CL5 |
p.Pro
1150
Ile
|
details |
homologous mutations |
2 |
5 |
5 |
D |
D |
? |
TMD2,CL5 |
p.Asn
1156
Gln
|
details |
homologous mutations |
1 |
9 |
14 |
N |
D |
? |
TMD2,CL5 |
p.Glu
1157
Leu
|
details |
homologous mutations |
4 |
10 |
10 |
D |
D |
? |
TMD2,CL5 |
p.Gly
1161
Pro
|
details |
homologous mutations |
4 |
9 |
9 |
D |
D |
? |
TMD2,CL5 |
p.Gly
1161
Leu
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD2,CL5 |
p.Val
1164
Ile
|
details |
homologous mutations |
1 |
5 |
5 |
N |
N |
? |
TMD2,CL5 |
p.Arg
1166
Ala
|
details |
homologous mutations |
2 |
15 |
15 |
D |
D |
? |
TMD2,CL5 |
p.Arg
1166
Lys
|
details |
homologous mutations |
1 |
10 |
10 |
D |
D |
? |
TMD2,CL5 |
p.Arg
1173
Ala
|
details |
homologous mutations |
1 |
6 |
6 |
N |
D |
? |
TMD2,CL5 |
p.Asp
1179
Ala
|
details |
homologous mutations |
2 |
11 |
11 |
N |
D |
? |
TMD2,CL5 |
p.Lys
1181
Ala
|
details |
homologous mutations |
2 |
21 |
21 |
N |
D |
? |
TMD2,CL5 |
p.Asp
1183
Ala
|
details |
homologous mutations |
2 |
13 |
13 |
D |
D |
? |
TMD2,CL5 |
p.Asp
1183
Glu
|
details |
homologous mutations |
1 |
10 |
10 |
D |
D |
? |
TMD2,CL5 |
p.Glu
1184
Lys
|
details |
homologous mutations |
1 |
5 |
5 |
N |
N |
? |
TMD2,CL5 |
p.Glu
1184
Ala
|
details |
homologous mutations |
1 |
6 |
6 |
N |
N |
? |
TMD2,CL5 |
p.Tyr
1189
Ala
|
details |
homologous mutations |
2 |
17 |
17 |
D |
D |
? |
TMD2,CL5 |
p.Tyr
1189
Ser
|
details |
homologous mutations |
1 |
37 |
43 |
D |
D |
? |
TMD2,CL5 |
p.Tyr
1189
Phe
|
details |
homologous mutations |
1 |
3 |
3 |
N |
D |
? |
TMD2,CL5 |
p.Tyr
1189
Trp
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD2,CL5 |
p.Tyr
1190
Ser
|
details |
homologous mutations |
1 |
23 |
23 |
D |
D |
? |
TMD2,CL5 |
p.Tyr
1190
Ala
|
details |
homologous mutations |
1 |
16 |
16 |
D |
D |
? |
TMD2,CL5 |
p.Pro
1191
Ala
|
details |
homologous mutations |
1 |
6 |
6 |
N |
D |
? |
TMD2,CL5 |
p.Arg
1197
Glu
|
details |
homologous mutations |
3 |
10 |
10 |
D |
D |
? |
TMD2,CL5 |
p.Arg
1197
Lys
|
details |
homologous mutations |
4 |
16 |
16 |
D |
D |
? |
TMD2,TH11 |
p.Trp
1198
Phe
|
details |
homologous mutations |
1 |
5 |
5 |
D |
D |
? |
TMD2,TH11 |
p.Trp
1198
Ala
|
details |
homologous mutations |
2 |
14 |
16 |
D |
D |
? |
TMD2,TH11 |
p.Trp
1198
Tyr
|
details |
homologous mutations |
2 |
7 |
7 |
D |
D |
? |
TMD2,TH11 |
p.Arg
1202
Gly
|
details |
homologous mutations |
4 |
49 |
54 |
D |
D |
? |
TMD2,TH11 |
p.Arg
1202
Leu
|
details |
homologous mutations |
1 |
9 |
9 |
D |
D |
? |
TMD2,TH11 |
p.Arg
1202
Lys
|
details |
homologous mutations |
1 |
1 |
1 |
D |
N |
? |
TMD2,TH11 |
p.Arg
1202
Asp
|
details |
homologous mutations |
1 |
7 |
8 |
D |
D |
? |
TMD2,TH11 |
p.Glu
1204
Asp
|
details |
homologous mutations |
2 |
10 |
11 |
D |
N |
? |
TMD2,TH11 |
p.Glu
1204
Leu
|
details |
homologous mutations |
6 |
31 |
35 |
D |
D |
? |
TMD2,TH11 |
p.Glu
1204
Lys
|
details |
homologous mutations |
1 |
7 |
8 |
D |
D |
? |
TMD2,TH11 |
p.Cys
1205
Ser
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
TMD2,TH11 |
p.Cys
1205
Ala
|
details |
homologous mutations |
1 |
1 |
2 |
N |
N |
? |
TMD2,TH11 |
p.Gly
1207
Ser
|
details |
homologous mutations |
1 |
13 |
15 |
D |
D |
? |
TMD2,TH11 |
p.Gly
1207
Asp
|
details |
homologous mutations |
1 |
12 |
14 |
D |
D |
? |
TMD2,TH11 |
p.Asn
1208
Ala
|
details |
homologous mutations |
1 |
3 |
3 |
D |
D |
? |
TMD2,TH11 |
p.Cys
1209
Ser
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD2,TH11 |
p.Cys
1209
Ala
|
details |
homologous mutations |
1 |
1 |
2 |
N |
D |
? |
TMD2,TH11 |
p.Phe
1213
Trp
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD2,EL6 |
p.Arg
1222
Met
|
details |
homologous mutations |
1 |
9 |
9 |
D |
D |
? |
TMD2,TH12 |
p.Ala
1227
Lys
|
details |
homologous mutations |
3 |
4 |
4 |
D |
N |
? |
TMD2,TH12 |
p.Ser
1233
Ala
|
details |
homologous mutations |
1 |
4 |
4 |
N |
N |
? |
TMD2,TH12 |
p.Ser
1235
Ala
|
details |
homologous mutations |
1 |
4 |
4 |
D |
N |
? |
TMD2,TH12 |
p.Tyr
1236
Phe
|
details |
homologous mutations |
5 |
12 |
12 |
D |
D |
? |
TMD2,TH12 |
p.Tyr
1236
Trp
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
TMD2,TH12 |
p.Ser
1237
Ala
|
details |
homologous mutations |
1 |
4 |
4 |
N |
N |
? |
TMD2,TH12 |
p.Gln
1239
Ala
|
details |
homologous mutations |
1 |
5 |
5 |
D |
D |
? |
TMD2,TH12 |
p.Thr
1241
Ala
|
details |
homologous mutations |
4 |
9 |
9 |
D |
D |
? |
TMD2,TH12 |
p.Thr
1242
Ala
|
details |
homologous mutations |
6 |
19 |
21 |
N |
N |
? |
TMD2,TH12 |
p.Thr
1242
Cys
|
details |
homologous mutations |
3 |
4 |
4 |
N |
N |
? |
TMD2,TH12 |
p.Thr
1242
Ser
|
details |
homologous mutations |
3 |
4 |
4 |
N |
N |
? |
TMD2,TH12 |
p.Thr
1242
Asp
|
details |
homologous mutations |
1 |
2 |
2 |
N |
N |
? |
TMD2,TH12 |
p.Thr
1242
Lys
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
TMD2,TH12 |
p.Thr
1242
Leu
|
details |
homologous mutations |
2 |
2 |
2 |
N |
N |
? |
TMD2,TH12 |
p.Tyr
1243
Phe
|
details |
homologous mutations |
5 |
22 |
25 |
D |
N |
? |
TMD2,TH12 |
p.Asn
1245
Ala
|
details |
homologous mutations |
3 |
21 |
23 |
D |
D |
? |
CL6 |
p.Trp
1246
Cys
|
details |
homologous mutations |
9 |
112 |
122 |
D |
D |
? |
CL6 |
p.Trp
1246
Ala
|
details |
homologous mutations |
11 |
37 |
39 |
D |
D |
? |
CL6 |
p.Trp
1246
Phe
|
details |
homologous mutations |
7 |
18 |
19 |
D |
D |
? |
CL6 |
p.Trp
1246
Tyr
|
details |
homologous mutations |
6 |
17 |
18 |
D |
D |
? |
CL6 |
p.Arg
1249
Ala
|
details |
homologous mutations |
6 |
26 |
30 |
D |
D |
? |
CL6 |
p.Arg
1249
Met
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
CL6 |
p.Arg
1249
Asp
|
details |
homologous mutations |
1 |
9 |
9 |
D |
D |
? |
CL6 |
p.Arg
1249
Lys
|
details |
homologous mutations |
3 |
15 |
15 |
D |
D |
? |
CL6 |
p.Tyr
1267
Ala
|
details |
homologous mutations |
1 |
3 |
4 |
D |
D |
? |
CL6 |
p.Tyr
1267
Trp
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
CL6 |
p.Tyr
1267
Leu
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
CL6 |
p.Tyr
1267
Phe
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
CL6 |
p.Tyr
1267
Lys
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
CL6 |
p.Val
1290
Gln
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
CL6,NBD2 |
p.Phe
1295
Ile
|
details |
homologous mutations |
1 |
2 |
2 |
N |
D |
? |
CL6,NBD2 |
p.Arg
1296
Trp
|
details |
homologous mutations |
1 |
2 |
2 |
N |
D |
? |
CL6,NBD2 |
p.Arg
1296
Cys
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
CL6,NBD2 |
p.Tyr
1298
Leu
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
CL6,NBD2 |
p.Cys
1299
Ala
|
details |
homologous mutations |
1 |
1 |
2 |
N |
N |
? |
CL6,NBD2 |
p.Arg
1301
Cys
|
details |
homologous mutations |
2 |
9 |
9 |
N |
D |
? |
CL6,NBD2 |
p.Tyr
1302
Trp
|
details |
homologous mutations |
1 |
22 |
35 |
D |
D |
? |
CL6,NBD2 |
p.Tyr
1302
Cys
|
details |
homologous mutations |
4 |
19 |
36 |
D |
D |
? |
CL6,NBD2 |
p.Lys
1322
Asp
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
CL6,NBD2,WA2 |
p.Ala
1331
Cys
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
CL6,NBD2,WA2 |
p.Lys
1333
Met
|
details |
homologous mutations |
8 |
32 |
38 |
D |
D |
? |
CL6,NBD2,WA2 |
p.Lys
1333
Leu
|
details |
homologous mutations |
11 |
95 |
114 |
D |
D |
? |
CL6,NBD2,WA2 |
p.Lys
1333
Arg
|
details |
homologous mutations |
3 |
11 |
11 |
D |
D |
? |
CL6,NBD2,WA2 |
p.Lys
1333
Glu
|
details |
homologous mutations |
4 |
11 |
11 |
D |
D |
? |
CL6,NBD2,WA2 |
p.Ser
1334
Asn
|
details |
homologous mutations |
2 |
18 |
19 |
D |
D |
? |
CL6,NBD2,WA2 |
p.Ser
1334
Asp
|
details |
homologous mutations |
2 |
18 |
19 |
D |
D |
? |
CL6,NBD2,WA2 |
p.Ser
1334
Ala
|
details |
homologous mutations |
2 |
28 |
30 |
D |
D |
? |
CL6,NBD2,WA2 |
p.Ser
1334
Cys
|
details |
homologous mutations |
2 |
18 |
20 |
D |
D |
? |
CL6,NBD2,WA2 |
p.Ser
1334
Thr
|
details |
homologous mutations |
2 |
30 |
35 |
D |
D |
? |
CL6,NBD2,WA2 |
p.Ser
1334
His
|
details |
homologous mutations |
2 |
18 |
19 |
D |
D |
? |
CL6,NBD2 |
p.Thr
1337
Ala
|
details |
homologous mutations |
3 |
3 |
3 |
N |
D |
? |
CL6,NBD2 |
p.Ala
1347
Gly
|
details |
homologous mutations |
2 |
3 |
4 |
N |
D |
? |
CL6,NBD2 |
p.Gly
1362
Ala
|
details |
homologous mutations |
2 |
3 |
4 |
D |
D |
? |
CL6,NBD2 |
p.His
1364
Ala
|
details |
homologous mutations |
1 |
5 |
5 |
D |
D |
? |
CL6,NBD2 |
p.His
1364
Glu
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
CL6,NBD2 |
p.Asp
1365
Asn
|
details |
homologous mutations |
1 |
3 |
3 |
D |
D |
? |
CL6,NBD2 |
p.Arg
1367
Ala
|
details |
homologous mutations |
1 |
4 |
4 |
D |
D |
? |
CL6,NBD2 |
p.Gln
1375
Met
|
details |
homologous mutations |
1 |
14 |
21 |
D |
D |
? |
CL6,NBD2 |
p.Gln
1375
Leu
|
details |
homologous mutations |
1 |
15 |
19 |
D |
D |
? |
CL6,NBD2 |
p.Gln
1375
Asn
|
details |
homologous mutations |
1 |
13 |
17 |
D |
D |
? |
CL6,NBD2 |
p.Gly
1382
Ser
|
details |
homologous mutations |
2 |
2 |
2 |
D |
D |
? |
CL6,NBD2 |
p.Thr
1401
Met
|
details |
homologous mutations |
3 |
3 |
3 |
N |
N |
? |
CL6,NBD2 |
p.Cys
1423
Ala
|
details |
homologous mutations |
1 |
1 |
2 |
D |
D |
? |
CL6,NBD2,SIG2 |
p.Leu
1430
Arg
|
details |
homologous mutations |
3 |
8 |
8 |
D |
D |
? |
CL6,NBD2,SIG2 |
p.Val
1432
Gly
|
details |
homologous mutations |
1 |
5 |
5 |
D |
D |
? |
CL6,NBD2,SIG2 |
p.Gly
1433
Asp
|
details |
homologous mutations |
8 |
53 |
56 |
D |
D |
? |
CL6,NBD2,SIG2 |
p.Gly
1433
Ala
|
details |
homologous mutations |
3 |
14 |
14 |
D |
D |
? |
CL6,NBD2,SIG2 |
p.Arg
1435
Gln
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
CL6,NBD2,SIG2 |
p.Leu
1437
Arg
|
details |
homologous mutations |
1 |
4 |
4 |
D |
D |
? |
CL6,NBD2,SIG2 |
p.Cys
1439
Ser
|
details |
homologous mutations |
1 |
5 |
5 |
N |
D |
? |
CL6,NBD2,SIG2 |
p.Cys
1439
Ala
|
details |
homologous mutations |
1 |
1 |
2 |
N |
D |
? |
CL6,NBD2,WB2 |
p.Asp
1454
Leu
|
details |
homologous mutations |
8 |
28 |
31 |
D |
D |
? |
CL6,NBD2,WB2 |
p.Asp
1454
Asn
|
details |
homologous mutations |
6 |
28 |
29 |
D |
D |
? |
CL6,NBD2 |
p.Glu
1455
Leu
|
details |
homologous mutations |
9 |
37 |
39 |
D |
D |
? |
CL6,NBD2 |
p.Glu
1455
Asp
|
details |
homologous mutations |
6 |
80 |
106 |
D |
D |
? |
CL6,NBD2 |
p.Glu
1455
Ser
|
details |
homologous mutations |
2 |
11 |
11 |
D |
D |
? |
CL6,NBD2 |
p.Glu
1455
Gln
|
details |
homologous mutations |
7 |
70 |
86 |
D |
D |
? |
CL6,NBD2 |
p.Glu
1455
Asn
|
details |
homologous mutations |
2 |
12 |
12 |
D |
D |
? |
CL6,NBD2 |
p.Ala
1459
Thr
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
CL6,NBD2 |
p.Cys
1479
Ala
|
details |
homologous mutations |
1 |
1 |
2 |
D |
D |
? |
CL6,NBD2 |
p.His
1486
Leu
|
details |
homologous mutations |
2 |
25 |
44 |
D |
D |
? |
CL6,NBD2 |
p.His
1486
Phe
|
details |
homologous mutations |
2 |
30 |
48 |
D |
D |
? |
CL6,NBD2 |
p.His
1486
Gln
|
details |
homologous mutations |
1 |
6 |
12 |
D |
D |
? |
CL6,NBD2 |
p.His
1486
Trp
|
details |
homologous mutations |
1 |
4 |
8 |
D |
D |
? |
CL6,NBD2 |
p.His
1486
Tyr
|
details |
homologous mutations |
1 |
5 |
10 |
D |
D |
? |
CL6,NBD2 |
p.His
1486
Glu
|
details |
homologous mutations |
1 |
6 |
10 |
D |
D |
? |
CL6,NBD2 |
p.His
1486
Asp
|
details |
homologous mutations |
1 |
5 |
9 |
D |
D |
? |
CL6,NBD2 |
p.His
1486
Asn
|
details |
homologous mutations |
1 |
5 |
11 |
D |
D |
? |
CL6,NBD2 |
p.Leu
1488
Ala
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
CL6,NBD2 |
p.Ile
1491
Ala
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
CL6,NBD2 |
p.Met
1492
Ala
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
CL6,NBD2 |
p.Val
1497
Ala
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
CL6,NBD2 |
p.Ile
1498
Ala
|
details |
homologous mutations |
1 |
2 |
2 |
N |
D |
? |
CL6,NBD2 |
p.Val
1499
Ala
|
details |
homologous mutations |
1 |
2 |
3 |
D |
D |
? |
CL6,NBD2 |
p.Leu
1500
Ala
|
details |
homologous mutations |
1 |
3 |
4 |
D |
D |
? |
CL6,NBD2 |
p.Asp
1501
Ala
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
CL6,NBD2 |
p.Asp
1501
Gly
|
details |
homologous mutations |
1 |
5 |
5 |
D |
D |
? |
CL6,NBD2 |
p.Gly
1503
Ala
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
CL6,NBD2 |
p.Ile
1505
Ala
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
CL6,NBD2 |
p.Glu
1507
Ala
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
CL6,NBD2 |
p.Glu
1507
Asp
|
details |
homologous mutations |
1 |
6 |
6 |
D |
D |
? |
CL6,NBD2 |
p.Glu
1507
Gly
|
details |
homologous mutations |
1 |
6 |
6 |
D |
D |
? |
CL6,NBD2 |
p.Gly
1509
Ala
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
CL6,NBD2 |
p.Pro
1511
Ala
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
CL6,NBD2 |
p.Ser
1512
Leu
|
details |
homologous mutations |
11 |
30 |
33 |
N |
D |
? |
CL6,NBD2 |
p.Leu
1514
Ala
|
details |
homologous mutations |
1 |
3 |
3 |
D |
D |
? |
CL6,NBD2 |
p.Leu
1514
Ile
|
details |
homologous mutations |
1 |
3 |
3 |
N |
N |
? |
CL6,NBD2 |
p.Leu
1514
Val
|
details |
homologous mutations |
1 |
2 |
2 |
N |
N |
? |
CL6,NBD2 |
p.Leu
1515
Ala
|
details |
homologous mutations |
2 |
4 |
4 |
N |
D |
? |
CL6,NBD2 |
p.Leu
1515
Ile
|
details |
homologous mutations |
1 |
3 |
3 |
N |
N |
? |
CL6,NBD2 |
p.Leu
1515
Val
|
details |
homologous mutations |
1 |
3 |
3 |
N |
N |
? |
CL6,NBD2 |
p.Gln
1516
Ala
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
CL6,NBD2 |
p.Arg
1518
Ala
|
details |
homologous mutations |
1 |
1 |
1 |
N |
D |
? |
CL6,NBD2 |
p.Gly
1519
Ala
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
CL6,NBD2 |
p.Leu
1520
Ala
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
CL6,NBD2 |
p.Phe
1521
Ala
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
CL6,NBD2 |
p.Phe
1521
Tyr
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
CL6,NBD2 |
p.Phe
1521
Gly
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
CL6,NBD2 |
p.Phe
1521
Glu
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
CL6,NBD2 |
p.Phe
1521
Gln
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
CL6,NBD2 |
p.Tyr
1522
Ala
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
CL6,NBD2 |
p.Ser
1523
Ala
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
CL6,NBD2 |
p.Met
1524
Gly
|
details |
homologous mutations |
1 |
4 |
5 |
D |
D |
? |
CL6,NBD2 |
p.Met
1524
Ala
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
CL6,NBD2 |
p.Ala
1525
Gly
|
details |
homologous mutations |
1 |
3 |
4 |
D |
D |
? |
CL6,NBD2 |
p.Lys
1526
Ala
|
details |
homologous mutations |
1 |
1 |
1 |
N |
D |
? |
CL6,NBD2 |
p.Asp
1527
Ala
|
details |
homologous mutations |
1 |
2 |
2 |
N |
D |
? |
CL6 |
p.Gly
1529
Ala
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |