Mutations at homologous positions to ABCC8 p.Gly1342
Alignment: ABCC_full, Alignment of full length ABCC proteins, 2016-02-18 11:19:27Mutations exactly at the same position:
|
SNAP2 PROVEAN Effect_dbs |
||
|---|---|---|
| ABCC8 |
p.Gly1342Glu
p.Gly1342Ala
|
D
D
?
D
D
?
|
| ABCC6 |
p.Gly1263Arg
|
D
D
D
|
| ABCC7 |
p.Gly1208Leu
|
D
D
?
|
Mutations +/- 5 a.a. around the position:
| ABCC1 |
p.Val1290Gln
p.Phe1295Ile
p.Arg1296Trp
p.Arg1296Cys
|
N
N
?
N
D
?
N
D
?
D
D
?
|
| ABCC2 |
p.Lys1299Gln
|
N
N
?
|
| ABCC3 |
p.Arg1286Gly
|
D
N
?
|
| ABCC6 |
p.Trp1259Gly
p.Arg1268Gln
|
D
D
?
D
N
D
|
| ABCC7 |
p.Ile1203Val
p.Trp1204*
p.Ser1206*
p.Gln1209His
p.Met1210Ile
p.Val1212Ile
p.Val1212Phe
|
N
N
-
-
D
-
-
N
N
?
N
N
?
N
N
N
N
?
|
The alignment around the queried position:
ABCC8 1320
T
E
A
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
S
Y
G
L
L
A
P
S
L
I
P
K
N
W
P
D
Q
K
I
Q
I
Q
N
L
S
V
R
Y
D
S
L
K
P
V
L
K
H
V
N
L
I
P
G
K
I
G
I
C
G
T
S
1382
ABCC1 1270
T
E
K
E
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
A
P
W
-
Q
I
Q
E
T
A
P
P
S
S
W
P
Q
G
R
V
E
N
L
R
E
D
L
D
F
V
L
R
H
I
N
V
T
I
N
G
G
E
V
G
I
V
G
R
T
G
1331
ABCC2 1278
V
E
N
E
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
A
P
W
-
V
D
-
K
R
P
P
D
W
P
S
K
G
I
Q
F
N
N
Y
Q
V
R
Y
P
E
L
D
L
V
L
R
G
I
T
C
D
G
S
M
E
K
I
G
V
V
G
R
T
G
A
1338
ABCC3 1266
T
E
T
E
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
A
P
W
-
V
V
E
G
S
R
P
P
E
G
W
P
P
G
E
V
E
F
R
N
Y
S
V
Y
R
G
L
D
L
V
L
R
D
L
S
L
H
V
H
G
E
K
V
G
I
G
R
T
G
A
1327
ABCC4 1019
L
E
K
E
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
A
P
W
E
Y
Q
K
-
-
R
P
P
P
A
W
P
H
E
G
V
I
I
F
D
N
V
N
F
M
Y
S
P
G
G
P
L
V
L
K
H
L
L
I
K
S
Q
E
K
G
I
V
G
R
T
G
A
1079
ABCC5 1169
T
L
S
L
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
E
A
P
A
R
I
K
N
K
A
P
S
P
D
W
P
Q
E
G
E
V
T
F
E
N
A
E
M
R
Y
R
N
L
P
L
V
L
K
K
V
S
F
T
I
K
P
K
E
K
I
G
I
V
G
R
T
G
S
1231
ABCC6 1242
T
P
K
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
A
P
W
-
R
L
P
T
C
A
A
Q
P
P
P
Q
G
Q
I
E
F
D
F
G
L
Y
P
E
L
P
L
A
V
Q
G
V
S
F
K
I
H
G
K
V
G
I
R
1303
ABCC7 1169
M
P
T
E
K
P
T
S
T
P
K
N
G
Q
L
S
K
V
I
I
N
H
K
D
D
P
G
T
K
D
L
T
A
E
G
G
I
N
S
S
P
G
L
R
1248
ABCC9 1288
M
E
S
E
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
N
Y
E
G
T
M
D
P
S
Q
V
P
E
H
W
P
Q
E
G
E
I
K
I
H
D
L
C
V
R
Y
E
N
N
L
K
P
V
L
K
H
V
A
Y
I
K
P
G
Q
K
V
G
I
C
G
R
T
G
S
1350
ABCC10 1224
D
L
P
Q
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
E
P
Q
-
G
Q
P
L
Q
L
G
T
G
-
W
L
T
Q
G
G
V
E
F
Q
D
V
V
L
A
Y
R
P
G
L
P
N
A
L
D
G
V
T
F
C
V
Q
P
G
E
K
L
G
I
V
G
R
T
G
S
1284
ABCC11 1117
M
C
V
S
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
E
A
P
L
H
M
E
G
T
S
C
P
Q
G
W
P
Q
H
G
E
I
I
F
Q
D
Y
H
M
K
Y
R
D
N
T
P
T
V
L
H
G
I
N
L
T
I
R
G
H
E
V
V
G
V
G
R
T
G
S
1179
ABCC12 1096
T
C
V
P
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
E
C
T
H
P
L
K
V
G
T
C
P
K
D
W
P
S
R
G
E
I
T
F
R
D
Y
Q
R
Y
R
D
N
T
P
L
V
L
D
S
L
N
L
N
I
Q
S
G
Q
T
V
G
I
V
G
R
T
G
S
1158