Mutations at homologous positions to ABCC6 p.Val1298
Alignment: ABCC_full, Alignment of full length ABCC proteins, 2016-02-18 11:19:27Mutations exactly at the same position:
|
SNAP2 PROVEAN Effect_dbs |
||
|---|---|---|
| ABCC6 |
p.Val1298Phe
|
D
D
D
|
| ABCC3 |
p.Val1322Phe
|
D
D
?
|
Mutations +/- 5 a.a. around the position:
| ABCC6 |
p.Glu1293Lys
p.Gly1299Ser
p.Thr1301Ile
p.Gly1302Arg
p.Ala1303Pro
|
D
D
D
D
D
D
D
D
D
D
D
D
N
D
D
|
| ABCC1 |
p.Lys1322Asp
p.Ala1331Cys
|
D
D
?
D
D
?
|
| ABCC11 |
p.Ile1173Phe
|
D
D
?
|
| ABCC4 |
p.Val1071Ile
|
N
N
?
|
| ABCC7 |
p.Gln1238*
p.Gln1238Arg
p.Arg1239Ser
p.Val1240Gly
p.Leu1242Ile
p.Gly1244Glu
p.Gly1244Asp
p.Gly1244Val
p.Gly1244Arg
p.Thr1246Ile
p.Thr1246Asn
p.Thr1246Cys
p.Thr1246Ala
p.Thr1246Val
p.Thr1246Pro
p.Gly1247Arg
p.Gly1247Asp
p.Gly1247*
p.Ser1248Phe
p.Ser1248Cys
p.Ser1248Ala
|
-
-
D
D
N
N
N
?
D
D
N
N
?
D
D
D
D
D
?
D
D
D
D
D
D
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
D
D
D
D
?
-
-
?
D
D
?
D
N
?
N
N
?
|
| ABCC8 |
p.Gln1372Ala
p.Arg1379Cys
p.Arg1379Leu
p.Arg1379His
p.Arg1379Ser
p.Gly1381Ser
|
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
|
The alignment around the queried position:
ABCC6 1259
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
G
K
S
L
A
S
L
L
L
Q
E
A
A
E
G
I
I
V
P
A
H
V
G
H
T
L
1338
ABCC1 1287
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
G
S
L
L
G
L
F
R
I
N
E
S
E
G
E
I
I
I
D
G
I
N
I
A
K
I
L
L
1366
ABCC2 1294
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
G
K
S
S
L
T
N
C
L
F
R
L
A
A
G
G
Q
I
I
I
D
G
V
D
I
A
I
G
L
H
D
1373
ABCC3 1283
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
G
K
S
S
M
T
L
C
L
F
R
I
L
E
A
A
K
G
E
I
I
D
G
L
N
V
A
D
I
G
L
H
1362
ABCC4 1035
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
G
S
S
I
S
A
L
F
R
L
S
E
P
-
E
G
K
I
W
I
D
K
L
T
T
E
I
G
L
H
D
L
1113
ABCC5 1187
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
G
K
S
S
L
G
M
L
F
R
L
V
E
L
S
G
C
K
I
D
G
V
R
I
S
D
I
G
L
A
D
L
1266
ABCC7 1204
P
G
T
K
D
L
T
A
E
G
G
I
N
S
S
P
G
L
R
L
A
R
N
-
E
G
E
I
I
G
V
S
W
D
S
I
T
L
1282
ABCC8 1338
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
G
S
F
S
L
A
F
V
T
F
E
H
I
I
I
D
G
I
D
I
A
K
L
L
H
T
L
1417
ABCC9 1306
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
G
S
S
L
S
L
A
F
F
R
M
V
D
I
F
D
G
K
I
V
I
D
G
I
D
I
S
K
L
P
L
H
T
L
1385
ABCC10 1240
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
G
K
S
S
L
L
L
V
L
F
R
L
L
E
P
S
S
G
R
V
L
L
D
G
V
D
T
S
Q
L
E
L
A
Q
L
1319
ABCC11 1135
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
G
K
S
S
L
G
M
A
L
F
R
L
V
E
P
M
A
G
R
I
L
I
D
G
V
D
I
C
S
I
G
L
E
D
L
1214
ABCC12 1114
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
G
K
S
S
L
G
M
A
L
F
R
L
V
E
P
A
S
G
T
I
F
I
D
E
V
D
I
C
I
L
S
L
E
D
L
1193