Mutations at homologous positions to ABCC8 p.Val1550
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.Val1550Asp
|
D
D
?
|
| ABCC1 |
p.Val1499Ala
|
D
D
?
|
| ABCC7 |
p.Val1415*
p.Val1415Ala
|
-
-
?
D
D
?
|
Mutations +/- 5 a.a. around the position:
| ABCC8 |
p.Leu1551Val
p.Ala1555Gly
|
N
N
?
N
N
?
|
| ABCC1 |
p.Val1497Ala
p.Ile1498Ala
p.Leu1500Ala
p.Asp1501Ala
p.Asp1501Gly
p.Gly1503Ala
|
D
D
?
N
D
?
D
D
?
D
D
?
D
D
?
D
D
?
|
| ABCC3 |
p.Arg1492Trp
|
D
D
?
|
| ABCC7 |
p.Cys1410*
p.Cys1410Ser
p.Cys1410Thr
p.Gln1411*
p.Gln1411Ala
p.Gln1411Asp
p.Gln1412*
p.Gln1412Ala
p.Gln1412Ser
p.Phe1413Ala
p.Leu1414Ala
p.Leu1414Ser
p.Leu1414Phe
p.Ile1416Ala
p.Glu1417Ala
p.Glu1418Ala
p.Glu1418*
p.Asn1419Ser
p.Lys1420*
|
-
-
?
N
N
?
N
N
?
-
-
N
D
?
N
N
?
-
-
N
N
?
N
N
?
D
N
?
D
D
?
D
D
N
N
?
N
D
?
N
D
?
N
N
?
-
-
N
N
?
-
-
?
|
| ABCC9 |
p.Ala1513Thr
|
N
N
D
|
The alignment around the queried position:
ABCC8 1511
I
M
A
E
N
I
L
Q
V
M
T
A
F
A
D
V
V
T
I
A
R
V
H
I
S
A
D
L
V
I
K
R
G
I
L
E
F
D
K
E
K
L
S
R
K
D
F
A
S
F
V
R
A
D
K
-
-
-
-
-
-
-
-
-
1582
ABCC1 1460
V
D
L
E
T
D
D
L
I
Q
S
T
I
R
T
Q
F
E
D
T
V
L
T
I
A
R
N
T
D
Y
T
R
K
E
Q
Y
A
D
Q
A
L
V
-
-
-
-
-
-
-
-
1532
ABCC2 1467
V
D
L
E
T
D
N
L
I
Q
T
I
Q
N
E
F
A
H
C
T
V
I
T
I
H
R
L
H
T
I
M
D
S
D
K
V
M
V
L
D
N
G
K
I
I
E
G
S
P
E
E
L
L
I
P
P
F
Y
F
M
A
K
E
A
G
I
E
N
V
N
-
1546
ABCC3 1456
I
D
L
E
T
D
N
L
I
Q
A
T
I
R
T
Q
F
D
T
C
V
L
T
I
A
H
R
L
N
T
I
M
D
Y
T
V
L
V
L
D
K
G
V
V
A
E
F
D
S
P
A
N
L
I
A
R
G
I
F
Y
G
M
A
R
D
A
G
L
A
-
-
-
-
-
-
-
-
1528
ABCC4 1207
V
D
P
R
T
D
E
L
I
Q
K
K
I
E
K
F
A
H
C
T
V
L
T
I
A
H
R
L
N
T
I
I
D
S
D
K
I
M
V
L
D
S
G
R
L
K
E
Y
D
E
P
Y
V
L
L
Q
N
K
E
L
F
Y
K
V
Q
Q
L
G
K
A
E
A
A
A
L
T
E
1286
ABCC5 1360
M
D
T
E
T
D
L
L
I
Q
E
T
I
R
E
A
F
A
D
C
T
M
L
I
A
H
R
L
H
T
V
L
S
D
R
I
M
V
L
A
Q
G
Q
V
V
E
F
D
T
P
S
V
L
L
S
N
D
S
S
R
F
Y
A
M
F
A
A
A
E
N
K
V
A
V
K
G
-
-
1438
ABCC6 1432
V
D
P
G
T
E
L
Q
M
Q
A
M
L
G
S
W
F
A
Q
C
T
V
L
L
I
A
H
L
S
V
M
D
C
A
R
V
L
V
M
D
K
G
Q
V
A
E
S
S
P
A
Q
L
L
A
Q
K
G
L
F
Y
L
A
Q
E
S
L
V
-
-
-
-
-
-
-
-
1504
ABCC7 1376
L
P
I
R
R
T
K
A
A
I
A
L
V
Q
Q
K
E
R
Q
I
S
P
S
R
V
K
L
P
H
N
1455
ABCC9 1479
I
D
M
A
T
E
N
I
L
Q
K
V
V
M
T
A
F
A
D
R
T
V
V
T
I
A
H
R
V
S
S
I
M
D
G
L
V
L
V
F
S
E
G
I
V
E
C
D
T
V
P
N
L
L
A
H
K
N
G
L
F
S
T
V
M
N
K
-
-
-
-
-
-
-
-
-
1550
ABCC10 1412
V
D
Q
K
T
D
Q
L
L
Q
Q
T
I
C
K
R
F
A
N
K
T
V
L
T
I
A
H
R
L
N
T
I
L
N
S
D
R
V
L
V
L
Q
A
G
R
V
V
E
L
D
S
P
A
L
R
N
Q
P
H
S
L
F
Q
Q
L
L
Q
S
S
Q
Q
G
V
P
A
S
L
G
G
1491
ABCC11 1308
I
D
M
E
T
D
T
L
I
Q
R
T
I
R
E
A
F
Q
G
C
T
V
L
V
I
A
H
R
V
T
T
V
L
N
C
D
H
I
L
V
M
G
N
G
K
V
V
E
F
D
R
P
E
V
L
R
K
K
P
G
S
L
F
A
A
L
M
A
T
A
T
S
S
L
R
-
-
-
-
-
1383
ABCC12 1287
M
D
S
K
D
T
L
V
Q
N
T
I
K
D
A
F
K
G
C
T
V
L
T
I
A
H
R
L
N
T
V
L
N
C
D
H
V
L
V
M
E
N
G
K
V
I
E
F
D
K
P
E
V
L
A
E
K
P
D
S
A
F
A
M
L
L
A
A
E
V
R
L
-
-
-
-
-
-
-
1360