Mutations at homologous positions to ABCC6 p.Arg1314
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.Arg1314Trp
p.Arg1314Gln
|
D
D
D
N
D
D
|
| ABCC8 |
p.Arg1393Leu
|
D
D
?
|
Mutations +/- 5 a.a. around the position:
| ABCC6 |
p.Gly1311Glu
|
D
D
D
|
| ABCC1 |
p.Thr1337Ala
p.Ala1347Gly
|
N
D
?
N
D
?
|
| ABCC2 |
p.Ile1350Leu
p.Glu1352Gln
|
N
N
?
D
D
?
|
| ABCC5 |
p.Ala1239Thr
|
N
D
?
|
| ABCC7 |
p.Leu1254*
p.Leu1254Ala
p.Ser1255Pro
p.Ser1255*
p.Ser1255Leu
p.Phe1257Leu
p.Leu1258*
p.Leu1260Pro
p.Leu1260Arg
p.Leu1260Cys
p.Leu1260Ala
p.Leu1261Cys
p.Thr1263Ala
p.Thr1263Ile
|
-
-
N
N
?
N
N
D
-
-
D
D
N
N
N
N
-
-
?
D
D
?
D
D
?
D
D
?
D
D
?
N
N
?
N
N
?
N
N
?
|
| ABCC8 |
p.Phe1392Val
p.Met1394Arg
p.Asp1396Tyr
|
D
D
D
D
D
?
D
D
?
|
The alignment around the queried position:
1701ABCC6 1275
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
S
R
S
I
I
D
P
L
F
P
1354
ABCC1 1303
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
F
K
I
T
I
I
P
D
P
V
L
F
S
1382
ABCC2 1310
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
R
E
K
L
T
I
I
D
P
I
L
F
S
G
1389
ABCC3 1299
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
R
S
L
T
I
I
P
Q
D
P
I
L
F
S
G
1378
ABCC4 1051
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
K
K
M
S
I
I
Q
E
P
V
L
F
T
G
1129
ABCC5 1203
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
R
S
K
L
S
I
I
P
Q
E
P
V
L
F
S
G
1282
ABCC7 1220
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
A
V
I
I
S
G
1298
ABCC8 1354
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
R
S
L
S
I
L
D
P
V
L
F
S
1433
ABCC9 1322
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
R
S
R
L
S
I
I
L
Q
D
P
I
L
F
S
G
1401
ABCC10 1256
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
R
S
Q
L
A
I
I
P
Q
E
P
F
L
F
S
G
1335
ABCC11 1151
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
R
S
K
L
S
V
I
P
Q
D
P
V
L
L
S
G
1230
ABCC12 1130
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
R
T
K
L
T
V
I
P
Q
D
P
V
L
F
V
G
1209