Mutations in ABCA1
reference sequence
Region |
Mutation |
|
|
Publications |
Sentences |
MutMiner_hits |
SNAP2 |
PROVEAN |
Effect_ExpVar |
CL0 |
p.Cys
23
Ala
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
CL0 |
p.Cys
23
Ser
|
details |
homologous mutations |
2 |
14 |
21 |
N |
N |
? |
TMD1,EL1 |
p.Leu
44
Pro
|
details |
homologous mutations |
1 |
1 |
1 |
D |
N |
? |
TMD1,EL1 |
p.Cys
54
Ser
|
details |
homologous mutations |
1 |
2 |
8 |
D |
D |
? |
TMD1,EL1 |
p.Cys
54
Tyr
|
details |
homologous mutations |
2 |
2 |
2 |
D |
D |
? |
TMD1,EL1 |
p.Ser
63
Ala
|
details |
homologous mutations |
1 |
2 |
2 |
D |
N |
? |
TMD1,EL1 |
p.Gln
71
Leu
|
details |
homologous mutations |
2 |
8 |
8 |
D |
D |
? |
TMD1,EL1 |
p.Cys
75
Ser
|
details |
homologous mutations |
1 |
2 |
6 |
D |
D |
? |
TMD1,EL1 |
p.Cys
81
Ser
|
details |
homologous mutations |
1 |
2 |
8 |
D |
D |
? |
TMD1,EL1 |
p.Pro
85
Ala
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
TMD1,EL1 |
p.Pro
85
Leu
|
details |
homologous mutations |
10 |
24 |
25 |
D |
D |
? |
TMD1,EL1 |
p.Pro
87
Leu
|
details |
homologous mutations |
1 |
2 |
2 |
N |
D |
? |
TMD1,EL1 |
p.Glu
89
Lys
|
details |
homologous mutations |
7 |
17 |
20 |
D |
D |
? |
TMD1,EL1 |
p.Val
93
Cys
|
details |
homologous mutations |
2 |
10 |
11 |
N |
N |
? |
TMD1,EL1 |
p.Ser
100
Cys
|
details |
homologous mutations |
2 |
18 |
19 |
N |
D |
? |
TMD1,EL1 |
p.Ser
100
Pro
|
details |
homologous mutations |
1 |
3 |
3 |
D |
D |
? |
TMD1,EL1 |
p.Ser
107
Tyr
|
details |
homologous mutations |
1 |
6 |
6 |
N |
N |
? |
TMD1,EL1 |
p.Tyr
115
Cys
|
details |
homologous mutations |
1 |
2 |
2 |
D |
N |
? |
TMD1,EL1 |
p.Arg
130
Cys
|
details |
homologous mutations |
1 |
2 |
2 |
N |
D |
? |
TMD1,EL1 |
p.Arg
130
Lys
|
details |
homologous mutations |
1 |
3 |
3 |
N |
N |
? |
TMD1,EL1 |
p.Leu
144
Arg
|
details |
homologous mutations |
2 |
2 |
3 |
D |
D |
? |
TMD1,EL1 |
p.His
160
Phe
|
details |
homologous mutations |
1 |
1 |
2 |
N |
N |
? |
TMD1,EL1 |
p.Leu
162
Val
|
details |
homologous mutations |
2 |
3 |
3 |
N |
N |
? |
TMD1,EL1 |
p.Pro
165
Ala
|
details |
homologous mutations |
1 |
1 |
1 |
D |
N |
? |
TMD1,EL1 |
p.Lys
171
*
|
details |
homologous mutations |
1 |
4 |
4 |
- |
- |
? |
TMD1,EL1 |
p.Ala
175
Pro
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
TMD1,EL1 |
p.Ile
178
Thr
|
details |
homologous mutations |
1 |
4 |
5 |
N |
N |
? |
TMD1,EL1 |
p.Gln
188
Leu
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
TMD1,EL1 |
p.Cys
195
Ser
|
details |
homologous mutations |
1 |
2 |
8 |
D |
D |
? |
TMD1,EL1 |
p.Ser
198
Ala
|
details |
homologous mutations |
2 |
60 |
72 |
N |
N |
? |
TMD1,EL1 |
p.Lys
199
Phe
|
details |
homologous mutations |
1 |
2 |
2 |
D |
N |
? |
TMD1,EL1 |
p.Glu
210
Asp
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
TMD1,EL1 |
p.Cys
215
Ser
|
details |
homologous mutations |
1 |
2 |
8 |
D |
D |
? |
TMD1,EL1 |
p.Arg
219
Lys
|
details |
homologous mutations |
120 |
1431 |
1738 |
N |
N |
|
TMD1,EL1 |
p.Leu
222
Ala
|
details |
homologous mutations |
3 |
75 |
86 |
D |
D |
? |
TMD1,EL1 |
p.Leu
222
Lys
|
details |
homologous mutations |
2 |
3 |
3 |
D |
D |
? |
TMD1,EL1 |
p.Arg
230
Cys
|
details |
homologous mutations |
31 |
509 |
609 |
D |
N |
? |
TMD1,EL1 |
p.Pro
248
Ala
|
details |
homologous mutations |
1 |
1 |
2 |
N |
N |
? |
TMD1,EL1 |
p.Ala
255
Thr
|
details |
homologous mutations |
7 |
45 |
54 |
N |
N |
? |
TMD1,EL1 |
p.Gly
266
Ala
|
details |
homologous mutations |
1 |
2 |
2 |
N |
N |
? |
TMD1,EL1 |
p.Leu
268
Ala
|
details |
homologous mutations |
2 |
8 |
8 |
N |
N |
? |
TMD1,EL1 |
p.Gln
270
Arg
|
details |
homologous mutations |
1 |
2 |
2 |
N |
N |
? |
TMD1,EL1 |
p.Arg
282
*
|
details |
homologous mutations |
6 |
47 |
51 |
- |
- |
? |
TMD1,EL1 |
p.Arg
282
Gln
|
details |
homologous mutations |
1 |
5 |
5 |
N |
N |
? |
TMD1,EL1 |
p.Glu
284
Lys
|
details |
homologous mutations |
2 |
10 |
12 |
N |
N |
? |
TMD1,EL1 |
p.Arg
306
His
|
details |
homologous mutations |
1 |
1 |
2 |
D |
N |
? |
TMD1,EL1 |
p.Cys
309
Ser
|
details |
homologous mutations |
1 |
2 |
6 |
D |
D |
? |
TMD1,EL1 |
p.Leu
317
Ala
|
details |
homologous mutations |
1 |
2 |
2 |
N |
N |
? |
TMD1,EL1 |
p.Cys
355
Ser
|
details |
homologous mutations |
1 |
2 |
8 |
D |
D |
? |
TMD1,EL1 |
p.Ser
364
Cys
|
details |
homologous mutations |
3 |
6 |
6 |
D |
D |
? |
TMD1,EL1 |
p.Ala
374
Gly
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
TMD1,EL1 |
p.Pro
377
Leu
|
details |
homologous mutations |
1 |
4 |
4 |
D |
D |
? |
TMD1,EL1 |
p.Val
399
Ala
|
details |
homologous mutations |
9 |
37 |
40 |
D |
N |
? |
TMD1,EL1 |
p.Lys
401
Gln
|
details |
homologous mutations |
1 |
1 |
2 |
N |
N |
? |
TMD1,EL1 |
p.Met
415
Leu
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
TMD1,EL1 |
p.Trp
424
*
|
details |
homologous mutations |
1 |
2 |
2 |
- |
- |
? |
TMD1,EL1 |
p.Leu
439
Ala
|
details |
homologous mutations |
1 |
4 |
4 |
D |
N |
? |
TMD1,EL1 |
p.Trp
449
Gly
|
details |
homologous mutations |
1 |
1 |
2 |
D |
N |
? |
TMD1,EL1 |
p.Gly
455
Ala
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
TMD1,EL1 |
p.Thr
459
Pro
|
details |
homologous mutations |
1 |
1 |
2 |
N |
D |
? |
TMD1,EL1 |
p.Ala
465
Val
|
details |
homologous mutations |
1 |
2 |
2 |
N |
N |
? |
TMD1,EL1 |
p.Tyr
482
Cys
|
details |
homologous mutations |
2 |
12 |
14 |
D |
D |
? |
TMD1,EL1 |
p.Ala
494
Gly
|
details |
homologous mutations |
1 |
2 |
2 |
N |
N |
? |
TMD1,EL1 |
p.Cys
504
Ser
|
details |
homologous mutations |
1 |
2 |
8 |
D |
D |
? |
TMD1,EL1 |
p.Lys
531
Asn
|
details |
homologous mutations |
1 |
2 |
2 |
D |
N |
? |
TMD1,EL1 |
p.Ile
546
Val
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
TMD1,EL1 |
p.His
551
Asp
|
details |
homologous mutations |
2 |
18 |
20 |
D |
D |
? |
TMD1,EL1 |
p.Arg
557
*
|
details |
homologous mutations |
1 |
7 |
8 |
- |
- |
? |
TMD1,EL1 |
p.Asp
571
Gly
|
details |
homologous mutations |
2 |
3 |
4 |
D |
D |
? |
TMD1,EL1 |
p.Asp
575
Asn
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
TMD1,EL1 |
p.Asp
575
Gly
|
details |
homologous mutations |
1 |
7 |
7 |
D |
D |
? |
TMD1,EL1 |
p.Arg
579
Gln
|
details |
homologous mutations |
2 |
5 |
6 |
D |
N |
? |
TMD1,EL1 |
p.Arg
587
Trp
|
details |
homologous mutations |
33 |
151 |
171 |
D |
D |
? |
TMD1,EL1 |
p.Arg
587
Lys
|
details |
homologous mutations |
1 |
1 |
1 |
D |
N |
? |
TMD1,EL1 |
p.Trp
590
Ser
|
details |
homologous mutations |
50 |
448 |
533 |
D |
D |
D |
TMD1,EL1 |
p.Trp
590
Leu
|
details |
homologous mutations |
6 |
27 |
34 |
D |
D |
? |
TMD1,EL1 |
p.Phe
593
Leu
|
details |
homologous mutations |
2 |
19 |
19 |
D |
D |
? |
TMD1,EL1 |
p.Ala
594
Thr
|
details |
homologous mutations |
1 |
6 |
6 |
N |
N |
? |
TMD1,EL1 |
p.Gln
597
Arg
|
details |
homologous mutations |
39 |
268 |
295 |
D |
D |
D |
TMD1,EL1 |
p.Gly
616
Val
|
details |
homologous mutations |
2 |
7 |
7 |
D |
D |
? |
TMD1,EL1 |
p.Cys
626
Ser
|
details |
homologous mutations |
1 |
2 |
8 |
D |
D |
? |
TMD1,EL1 |
p.Met
636
Val
|
details |
homologous mutations |
1 |
3 |
3 |
D |
N |
? |
TMD1,EL1 |
p.Arg
638
Gln
|
details |
homologous mutations |
1 |
1 |
2 |
D |
D |
? |
TMD1,EL1 |
p.Met
640
Leu
|
details |
homologous mutations |
2 |
3 |
4 |
N |
N |
? |
TMD1,TH2 |
p.Ile
659
Val
|
details |
homologous mutations |
2 |
8 |
8 |
N |
N |
? |
TMD1,CL1 |
p.Ala
665
Thr
|
details |
homologous mutations |
1 |
2 |
2 |
N |
N |
? |
TMD1,CL1 |
p.Met
671
Leu
|
details |
homologous mutations |
3 |
5 |
6 |
N |
N |
? |
TMD1,TH3 |
p.Ile
691
Val
|
details |
homologous mutations |
1 |
2 |
2 |
N |
N |
? |
TMD1,TH3 |
p.Pro
692
Ser
|
details |
homologous mutations |
1 |
1 |
1 |
N |
D |
? |
TMD1,TH4 |
p.Cys
733
Arg
|
details |
homologous mutations |
1 |
7 |
7 |
D |
D |
? |
TMD1,EL3 |
p.Val
771
Met
|
details |
homologous mutations |
41 |
301 |
364 |
N |
N |
? |
TMD1,EL3 |
p.Thr
774
Pro
|
details |
homologous mutations |
8 |
29 |
34 |
D |
N |
? |
TMD1,EL3 |
p.Lys
776
Asn
|
details |
homologous mutations |
17 |
109 |
139 |
D |
D |
? |
TMD1,EL3 |
p.Gly
788
Ala
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD1,EL3 |
p.Cys
791
Ser
|
details |
homologous mutations |
1 |
2 |
8 |
N |
D |
? |
TMD1,EL3 |
p.Tyr
793
Cys
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD1,EL3 |
p.Glu
815
Gly
|
details |
homologous mutations |
1 |
1 |
2 |
N |
D |
? |
TMD1,EL3 |
p.Ser
824
Leu
|
details |
homologous mutations |
2 |
3 |
3 |
D |
D |
? |
TMD1,EL3 |
p.Val
825
Ile
|
details |
homologous mutations |
37 |
330 |
380 |
N |
N |
? |
TMD1,EL3 |
p.Val
825
Leu
|
details |
homologous mutations |
2 |
15 |
22 |
N |
N |
? |
TMD1,EL3 |
p.Asp
831
Asn
|
details |
homologous mutations |
2 |
2 |
2 |
D |
D |
? |
TMD1,TH6 |
p.Trp
840
Arg
|
details |
homologous mutations |
2 |
8 |
16 |
D |
D |
? |
CL3 |
p.Glu
868
Lys
|
details |
homologous mutations |
1 |
3 |
4 |
N |
N |
? |
CL3 |
p.Ile
883
Met
|
details |
homologous mutations |
48 |
475 |
599 |
N |
N |
? |
CL3 |
p.Cys
887
Phe
|
details |
homologous mutations |
1 |
5 |
5 |
N |
N |
? |
CL3,NBD1 |
p.Arg
909
*
|
details |
homologous mutations |
10 |
18 |
19 |
- |
- |
? |
CL3,NBD1 |
p.Asp
917
Tyr
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
CL3,NBD1 |
p.Tyr
924
Phe
|
details |
homologous mutations |
1 |
9 |
12 |
D |
D |
? |
CL3,NBD1 |
p.Thr
929
Ile
|
details |
homologous mutations |
16 |
54 |
63 |
D |
D |
? |
CL3,NBD1 |
p.Ser
930
Phe
|
details |
homologous mutations |
3 |
4 |
5 |
D |
D |
? |
CL3,NBD1,WA1 |
p.Asn
935
Ser
|
details |
homologous mutations |
18 |
48 |
56 |
D |
D |
D |
CL3,NBD1,WA1 |
p.Asn
935
His
|
details |
homologous mutations |
5 |
11 |
15 |
D |
D |
D |
CL3,NBD1,WA1 |
p.Ala
937
Val
|
details |
homologous mutations |
12 |
79 |
87 |
D |
D |
D |
CL3,NBD1,WA1 |
p.Lys
939
Met
|
details |
homologous mutations |
14 |
84 |
96 |
D |
D |
? |
CL3,NBD1,WA1 |
p.Thr
940
Met
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
CL3,NBD1 |
p.Gly
948
Arg
|
details |
homologous mutations |
1 |
4 |
4 |
D |
D |
? |
CL3,NBD1 |
p.Tyr
958
Phe
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
CL3,NBD1 |
p.Arg
965
Cys
|
details |
homologous mutations |
2 |
3 |
4 |
D |
D |
? |
CL3,NBD1 |
p.Met
968
Thr
|
details |
homologous mutations |
1 |
1 |
2 |
D |
D |
? |
CL3,NBD1 |
p.Val
977
Ile
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
CL3,NBD1 |
p.Glu
1005
Lys
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
CL3,NBD1 |
p.Glu
1005
*
|
details |
homologous mutations |
1 |
1 |
2 |
- |
- |
? |
CL3,NBD1 |
p.Asp
1018
Glu
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
CL3,NBD1 |
p.Val
1019
Leu
|
details |
homologous mutations |
1 |
2 |
2 |
N |
N |
? |
CL3,NBD1 |
p.Leu
1026
Pro
|
details |
homologous mutations |
2 |
3 |
4 |
N |
N |
? |
CL3,NBD1,SIG1 |
p.Gly
1036
Ala
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
CL3,NBD1,SIG1 |
p.Gln
1038
*
|
details |
homologous mutations |
4 |
12 |
14 |
- |
- |
? |
CL3,NBD1,SIG1 |
p.Ser
1042
Ala
|
details |
homologous mutations |
1 |
26 |
42 |
N |
D |
? |
CL3,NBD1,SIG1 |
p.Ala
1046
Asp
|
details |
homologous mutations |
11 |
37 |
45 |
D |
D |
? |
CL3,NBD1,WB1 |
p.Val
1054
Ile
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
CL3,NBD1,WB1 |
p.Leu
1056
Pro
|
details |
homologous mutations |
5 |
26 |
31 |
D |
D |
? |
CL3,NBD1 |
p.Ala
1061
Asn
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
CL3,NBD1 |
p.Gly
1062
Gln
|
details |
homologous mutations |
1 |
3 |
3 |
D |
D |
? |
CL3,NBD1 |
p.Gly
1062
Asn
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
CL3,NBD1 |
p.Asp
1064
Ala
|
details |
homologous mutations |
1 |
3 |
4 |
D |
D |
? |
CL3,NBD1 |
p.Pro
1065
Cys
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
CL3,NBD1 |
p.Pro
1065
Ser
|
details |
homologous mutations |
7 |
26 |
28 |
D |
D |
? |
CL3,NBD1 |
p.Arg
1068
His
|
details |
homologous mutations |
7 |
97 |
112 |
D |
D |
? |
CL3,NBD1 |
p.Arg
1068
Cys
|
details |
homologous mutations |
4 |
15 |
20 |
D |
D |
? |
CL3,NBD1 |
p.Arg
1068
Trp
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
CL3,NBD1 |
p.Thr
1088
Ala
|
details |
homologous mutations |
1 |
22 |
34 |
D |
D |
? |
CL3,NBD1 |
p.Met
1091
Thr
|
details |
homologous mutations |
18 |
70 |
75 |
D |
D |
? |
CL3,NBD1 |
p.Met
1091
Val
|
details |
homologous mutations |
1 |
4 |
4 |
D |
D |
? |
CL3,NBD1 |
p.Met
1091
Leu
|
details |
homologous mutations |
1 |
5 |
5 |
N |
N |
? |
CL3,NBD1 |
p.Val
1096
Ile
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
CL3,NBD1 |
p.Leu
1097
Pro
|
details |
homologous mutations |
1 |
4 |
6 |
D |
D |
? |
CL3,NBD1 |
p.Asp
1099
Tyr
|
details |
homologous mutations |
11 |
29 |
32 |
D |
D |
D |
CL3,NBD1 |
p.Cys
1110
Ser
|
details |
homologous mutations |
2 |
10 |
10 |
N |
D |
? |
CL3,NBD1 |
p.Cys
1111
Ser
|
details |
homologous mutations |
2 |
16 |
20 |
D |
D |
? |
CL3 |
p.Glu
1172
Asp
|
details |
homologous mutations |
22 |
148 |
171 |
N |
N |
? |
CL3 |
p.Ser
1181
Phe
|
details |
homologous mutations |
4 |
6 |
8 |
D |
D |
? |
CL3 |
p.Gly
1201
Ala
|
details |
homologous mutations |
1 |
1 |
1 |
N |
D |
? |
CL3 |
p.Tyr
1206
Phe
|
details |
homologous mutations |
1 |
6 |
6 |
N |
N |
? |
CL3 |
p.Tyr
1206
Glu
|
details |
homologous mutations |
1 |
4 |
4 |
D |
D |
? |
CL3 |
p.Gly
1216
Val
|
details |
homologous mutations |
7 |
30 |
33 |
D |
D |
? |
CL3 |
p.Leu
1229
Lys
|
details |
homologous mutations |
1 |
2 |
6 |
D |
D |
? |
CL3 |
p.Leu
1229
Arg
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
CL3 |
p.Thr
1242
Ala
|
details |
homologous mutations |
1 |
18 |
36 |
D |
D |
? |
CL3 |
p.Thr
1242
Asp
|
details |
homologous mutations |
1 |
10 |
14 |
D |
D |
? |
CL3 |
p.Thr
1243
Ala
|
details |
homologous mutations |
1 |
16 |
32 |
D |
N |
? |
CL3 |
p.Thr
1243
Asp
|
details |
homologous mutations |
1 |
10 |
16 |
D |
N |
? |
CL3 |
p.Leu
1244
Gln
|
details |
homologous mutations |
1 |
4 |
4 |
D |
D |
? |
CL3 |
p.Glu
1245
Gln
|
details |
homologous mutations |
1 |
8 |
10 |
D |
D |
? |
CL3 |
p.Glu
1246
Gln
|
details |
homologous mutations |
1 |
8 |
10 |
D |
D |
? |
CL3 |
p.Val
1251
Arg
|
details |
homologous mutations |
1 |
4 |
10 |
D |
D |
? |
CL3 |
p.Glu
1253
Lys
|
details |
homologous mutations |
1 |
8 |
8 |
N |
N |
? |
CL3 |
p.Ser
1255
Ala
|
details |
homologous mutations |
1 |
16 |
16 |
N |
N |
? |
CL3 |
p.Gly
1256
Cys
|
details |
homologous mutations |
1 |
2 |
2 |
N |
D |
? |
CL3 |
p.Arg
1270
*
|
details |
homologous mutations |
4 |
12 |
12 |
- |
- |
? |
CL3 |
p.Gln
1279
Lys
|
details |
homologous mutations |
1 |
3 |
4 |
N |
N |
? |
CL3 |
p.Thr
1286
Ala
|
details |
homologous mutations |
1 |
12 |
14 |
N |
N |
? |
CL3 |
p.Asp
1289
Asn
|
details |
homologous mutations |
5 |
20 |
27 |
N |
N |
D |
CL3 |
p.Asp
1289
Leu
|
details |
homologous mutations |
2 |
6 |
6 |
N |
N |
D |
CL3 |
p.Ser
1296
Ala
|
details |
homologous mutations |
1 |
4 |
8 |
N |
N |
? |
CL3 |
p.Ser
1302
Ala
|
details |
homologous mutations |
1 |
4 |
8 |
N |
N |
? |
CL3 |
p.Thr
1305
Ala
|
details |
homologous mutations |
1 |
12 |
14 |
N |
N |
? |
CL3 |
p.Gln
1328
Arg
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
CL3 |
p.Arg
1341
Thr
|
details |
homologous mutations |
1 |
1 |
2 |
D |
N |
? |
TMD2,TH7 |
p.Cys
1359
Arg
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD2,EL4 |
p.Ser
1376
Gly
|
details |
homologous mutations |
1 |
1 |
2 |
N |
N |
? |
TMD2,EL4 |
p.Leu
1379
Phe
|
details |
homologous mutations |
6 |
33 |
34 |
D |
D |
? |
TMD2,EL4 |
p.Glu
1386
Gln
|
details |
homologous mutations |
3 |
11 |
13 |
N |
N |
? |
TMD2,EL4 |
p.Thr
1389
Cys
|
details |
homologous mutations |
2 |
9 |
9 |
D |
D |
? |
TMD2,EL4 |
p.Ala
1407
Thr
|
details |
homologous mutations |
1 |
3 |
3 |
D |
N |
? |
TMD2,EL4 |
p.Cys
1418
Ser
|
details |
homologous mutations |
1 |
2 |
20 |
D |
D |
? |
TMD2,EL4 |
p.Gly
1421
*
|
details |
homologous mutations |
1 |
3 |
4 |
- |
- |
? |
TMD2,EL4 |
p.Cys
1429
*
|
details |
homologous mutations |
1 |
4 |
4 |
- |
- |
? |
TMD2,EL4 |
p.Cys
1429
Ser
|
details |
homologous mutations |
1 |
2 |
20 |
D |
D |
? |
TMD2,EL4 |
p.Cys
1463
Ser
|
details |
homologous mutations |
1 |
2 |
20 |
D |
D |
? |
TMD2,EL4 |
p.Cys
1465
Ser
|
details |
homologous mutations |
1 |
2 |
20 |
D |
D |
? |
TMD2,EL4 |
p.Cys
1477
Arg
|
details |
homologous mutations |
53 |
241 |
274 |
D |
D |
D |
TMD2,EL4 |
p.Cys
1477
Phe
|
details |
homologous mutations |
3 |
11 |
12 |
D |
D |
D |
TMD2,EL4 |
p.Cys
1477
Ser
|
details |
homologous mutations |
1 |
2 |
16 |
D |
D |
D |
TMD2,EL4 |
p.Ser
1506
Leu
|
details |
homologous mutations |
11 |
40 |
46 |
D |
D |
D |
TMD2,EL4 |
p.Thr
1512
Met
|
details |
homologous mutations |
4 |
45 |
52 |
D |
D |
? |
TMD2,EL4 |
p.Ile
1517
Arg
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD2,EL4 |
p.Tyr
1532
Cys
|
details |
homologous mutations |
3 |
40 |
51 |
D |
D |
? |
TMD2,EL4 |
p.Ala
1544
Ser
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
TMD2,EL4 |
p.Glu
1550
Lys
|
details |
homologous mutations |
1 |
6 |
6 |
D |
N |
? |
TMD2,EL4 |
p.Ile
1555
Thr
|
details |
homologous mutations |
2 |
2 |
2 |
D |
N |
? |
TMD2,EL4 |
p.Lys
1587
Arg
|
details |
homologous mutations |
4 |
6 |
7 |
N |
N |
? |
TMD2,EL4 |
p.His
1600
Arg
|
details |
homologous mutations |
1 |
4 |
5 |
D |
D |
? |
TMD2,EL4 |
p.Asn
1611
Asp
|
details |
homologous mutations |
5 |
24 |
27 |
D |
D |
? |
TMD2,EL4 |
p.Arg
1615
Pro
|
details |
homologous mutations |
2 |
4 |
5 |
D |
D |
? |
TMD2,EL4 |
p.Arg
1615
Gln
|
details |
homologous mutations |
1 |
1 |
2 |
D |
D |
? |
TMD2,EL4 |
p.Arg
1615
Trp
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD2,EL4 |
p.Leu
1648
Pro
|
details |
homologous mutations |
2 |
2 |
2 |
D |
D |
? |
TMD2,TH8 |
p.Cys
1660
Arg
|
details |
homologous mutations |
1 |
29 |
38 |
D |
D |
? |
TMD2,TH8 |
p.Ala
1670
Thr
|
details |
homologous mutations |
1 |
1 |
2 |
D |
D |
? |
TMD2,TH8 |
p.Val
1674
Ile
|
details |
homologous mutations |
1 |
5 |
5 |
N |
N |
? |
TMD2,CL4 |
p.Arg
1680
Gln
|
details |
homologous mutations |
1 |
3 |
3 |
D |
D |
D |
TMD2,CL4 |
p.Arg
1680
Trp
|
details |
homologous mutations |
7 |
15 |
17 |
D |
D |
D |
TMD2,TH9 |
p.Trp
1699
Cys
|
details |
homologous mutations |
2 |
13 |
14 |
D |
D |
? |
TMD2,TH9 |
p.Val
1704
Asp
|
details |
homologous mutations |
5 |
30 |
32 |
D |
D |
? |
TMD2,TH9 |
p.Asp
1706
Asn
|
details |
homologous mutations |
2 |
7 |
7 |
D |
D |
? |
TMD2,EL5 |
p.Ser
1731
Cys
|
details |
homologous mutations |
9 |
83 |
115 |
D |
D |
? |
TMD2,TH10 |
p.Ser
1748
Leu
|
details |
homologous mutations |
1 |
7 |
7 |
D |
D |
? |
TMD2,TH11 |
p.Tyr
1767
His
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
TMD2,TH11 |
p.Tyr
1767
Asp
|
details |
homologous mutations |
1 |
11 |
11 |
D |
D |
? |
TMD2,TH11 |
p.Val
1773
Met
|
details |
homologous mutations |
1 |
2 |
2 |
D |
N |
? |
TMD2,EL6 |
p.Asn
1800
His
|
details |
homologous mutations |
29 |
177 |
206 |
D |
D |
? |
TMD2,EL6 |
p.Cys
1814
Ser
|
details |
homologous mutations |
1 |
2 |
4 |
D |
D |
? |
TMD2,EL6 |
p.Arg
1817
*
|
details |
homologous mutations |
1 |
2 |
2 |
- |
- |
? |
TMD2,EL6 |
p.Phe
1840
Leu
|
details |
homologous mutations |
1 |
3 |
3 |
D |
N |
? |
TMD2,EL6 |
p.Arg
1851
*
|
details |
homologous mutations |
8 |
39 |
44 |
- |
- |
? |
TMD2,EL6 |
p.Arg
1851
Gln
|
details |
homologous mutations |
2 |
18 |
20 |
D |
N |
? |
TMD2,EL6 |
p.Arg
1851
Gly
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
TMD2,TH12 |
p.Val
1858
Ala
|
details |
homologous mutations |
1 |
10 |
10 |
N |
N |
? |
TMD2,TH12 |
p.Leu
1869
*
|
details |
homologous mutations |
1 |
4 |
4 |
- |
- |
? |
CL6 |
p.Asn
1889
Thr
|
details |
homologous mutations |
1 |
2 |
2 |
N |
N |
? |
CL6 |
p.Arg
1897
Trp
|
details |
homologous mutations |
1 |
4 |
4 |
D |
D |
? |
CL6 |
p.Arg
1901
Ser
|
details |
homologous mutations |
3 |
11 |
13 |
D |
D |
? |
CL6,NBD2 |
p.Arg
1925
Gln
|
details |
homologous mutations |
5 |
25 |
27 |
D |
N |
? |
CL6,NBD2 |
p.Cys
1941
Arg
|
details |
homologous mutations |
2 |
7 |
7 |
D |
D |
? |
CL6,NBD2,WA2 |
p.Asn
1948
Ser
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
CL6,NBD2,WA2 |
p.Ala
1950
Val
|
details |
homologous mutations |
1 |
6 |
6 |
D |
D |
? |
CL6,NBD2,WA2 |
p.Lys
1952
Met
|
details |
homologous mutations |
9 |
40 |
51 |
D |
D |
? |
CL6,NBD2 |
p.Lys
1974
Arg
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
CL6,NBD2 |
p.Tyr
1990
Phe
|
details |
homologous mutations |
1 |
9 |
12 |
D |
D |
? |
CL6,NBD2 |
p.Arg
2004
Lys
|
details |
homologous mutations |
2 |
11 |
11 |
N |
N |
? |
CL6,NBD2 |
p.Phe
2009
Ser
|
details |
homologous mutations |
9 |
25 |
26 |
D |
D |
D |
CL6,NBD2 |
p.Phe
2009
Tyr
|
details |
homologous mutations |
1 |
2 |
2 |
N |
N |
? |
CL6,NBD2 |
p.Ala
2028
Val
|
details |
homologous mutations |
2 |
9 |
9 |
N |
D |
? |
CL6,NBD2 |
p.Lys
2031
Cys
|
details |
homologous mutations |
1 |
14 |
17 |
D |
D |
? |
CL6,NBD2 |
p.Lys
2031
Arg
|
details |
homologous mutations |
1 |
6 |
6 |
N |
N |
? |
CL6,NBD2 |
p.Tyr
2041
Phe
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
CL6,NBD2,SIG2 |
p.Tyr
2045
Phe
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
CL6,NBD2,SIG2 |
p.Ser
2046
Asn
|
details |
homologous mutations |
1 |
4 |
4 |
D |
D |
? |
CL6,NBD2,SIG2 |
p.Ser
2046
Arg
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
CL6,NBD2,SIG2 |
p.Ser
2054
Ala
|
details |
homologous mutations |
1 |
28 |
50 |
N |
N |
? |
CL6,NBD2 |
p.Thr
2073
Ala
|
details |
homologous mutations |
1 |
1 |
2 |
N |
D |
? |
CL6,NBD2 |
p.Thr
2073
Asn
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
CL6,NBD2 |
p.Gly
2074
Asn
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
CL6,NBD2 |
p.Gly
2074
Gln
|
details |
homologous mutations |
1 |
2 |
2 |
D |
D |
? |
CL6,NBD2 |
p.Asp
2076
Ala
|
details |
homologous mutations |
1 |
3 |
4 |
D |
D |
? |
CL6,NBD2 |
p.Pro
2077
His
|
details |
homologous mutations |
1 |
4 |
4 |
D |
D |
? |
CL6,NBD2 |
p.Arg
2081
Trp
|
details |
homologous mutations |
7 |
35 |
45 |
D |
D |
D |
CL6,NBD2 |
p.Val
2091
Ile
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
CL6,NBD2 |
p.Ala
2109
Thr
|
details |
homologous mutations |
2 |
4 |
4 |
N |
D |
? |
CL6,NBD2 |
p.Arg
2144
*
|
details |
homologous mutations |
14 |
36 |
42 |
- |
- |
? |
CL6 |
p.Pro
2150
Leu
|
details |
homologous mutations |
11 |
59 |
74 |
D |
D |
? |
CL6 |
p.Gly
2160
Thr
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
CL6 |
p.Phe
2163
Ser
|
details |
homologous mutations |
2 |
8 |
16 |
D |
D |
? |
CL6 |
p.Tyr
2178
His
|
details |
homologous mutations |
1 |
3 |
4 |
D |
D |
? |
CL6 |
p.Gln
2196
His
|
details |
homologous mutations |
2 |
10 |
12 |
N |
N |
? |
CL6 |
p.Gln
2210
His
|
details |
homologous mutations |
2 |
9 |
9 |
D |
D |
? |
CL6 |
p.Gln
2215
*
|
details |
homologous mutations |
2 |
3 |
3 |
- |
- |
? |
CL6 |
p.Gln
2239
Asn
|
details |
homologous mutations |
1 |
4 |
4 |
N |
N |
? |
CL6 |
p.Asp
2243
Glu
|
details |
homologous mutations |
1 |
1 |
2 |
D |
N |
? |
CL6 |
p.Val
2244
Ile
|
details |
homologous mutations |
2 |
8 |
17 |
N |
N |
? |
CL6 |
p.Leu
2247
Ala
|
details |
homologous mutations |
2 |
18 |
24 |
N |
N |
? |
CL6 |
p.Leu
2251
Ala
|
details |
homologous mutations |
1 |
14 |
18 |
D |
N |
? |
CL6 |
p.Glu
2254
Ala
|
details |
homologous mutations |
1 |
2 |
2 |
N |
N |
? |