Mutations at homologous positions to ABCC6 p.Ala950
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.Ala950Thr
p.Ala950Val
|
D
N
D
D
N
D
|
| ABCC2 |
p.Ile982Val
|
N
N
?
|
Mutations +/- 5 a.a. around the position:
| ABCC6 |
p.Leu946Ile
p.Phe952Cys
p.Leu953His
|
N
N
D
N
D
D
N
D
D
|
| ABCC2 |
p.Phe981Leu
|
N
N
?
|
| ABCC7 |
p.Leu863Ala
p.Cys866Tyr
p.Cys866Ser
p.Cys866Arg
|
N
N
?
D
N
D
D
N
?
D
D
?
|
| ABCC8 |
p.Leu1014Ser
p.Leu1014Phe
|
N
D
?
N
N
?
|
The alignment around the queried position:
ABCC6 912
D
P
D
R
A
G
W
P
A
G
K
D
S
I
Q
Y
G
R
V
K
A
T
V
H
L
A
L
R
A
V
G
-
P
C
L
Y
L
F
L
C
Q
Q
V
A
S
F
C
G
Y
W
L
S
L
A
D
D
P
A
-
-
-
-
-
-
-
-
-
-
-
-
V
G
978
ABCC1 940
K
K
E
E
T
W
K
L
M
E
A
D
K
Q
T
G
Q
V
L
S
V
Y
W
D
Y
M
K
A
I
G
-
L
F
I
S
F
L
S
I
F
L
F
M
N
H
V
S
L
A
S
N
Y
W
L
S
L
W
T
D
D
I
-
-
-
-
-
-
-
-
-
-
-
-
V
1006
ABCC2 944
E
L
V
K
G
Q
K
L
I
K
E
F
I
E
T
G
V
K
F
S
I
Y
L
E
Y
L
A
I
G
-
L
F
S
I
F
I
L
A
F
V
M
N
S
V
A
F
I
G
S
N
L
W
L
S
A
W
T
S
D
S
K
-
-
-
-
-
-
-
-
-
-
-
-
I
F
1010
ABCC3 938
K
A
D
G
-
-
A
L
T
Q
E
E
K
A
A
I
G
T
V
E
L
S
V
F
W
D
Y
A
K
A
V
G
-
L
C
T
T
L
A
I
C
L
L
Y
V
G
Q
S
A
A
A
I
G
A
N
V
W
L
A
W
T
N
D
A
M
-
-
-
-
-
-
-
-
-
-
-
-
A
D
1002
ABCC4 678
D
T
E
N
V
P
V
T
L
S
E
E
N
R
S
E
G
K
V
G
F
Q
A
Y
K
N
Y
F
R
A
G
A
H
W
I
V
F
I
F
L
I
L
L
N
T
A
A
Q
V
A
Y
V
L
Q
D
W
W
L
S
Y
W
A
N
K
Q
S
L
N
-
-
-
-
-
-
V
T
V
N
G
751
ABCC5 823
V
K
P
E
E
G
Q
L
V
Q
L
E
E
K
G
Q
G
S
V
P
W
S
V
Y
G
V
Y
I
Q
A
A
G
G
P
L
A
F
L
V
I
M
A
L
F
M
L
N
V
G
S
T
A
F
S
T
W
W
L
S
Y
W
I
K
Q
G
S
G
N
T
T
V
T
R
G
N
E
T
S
V
S
902
ABCC7 826
L
S
A
V
T
T
N
T
L
H
K
S
I
F
V
I
W
L
V
I
F
L
A
V
A
A
L
V
V
L
L
L
G
N
P
L
G
H
S
-
-
-
N
S
902
ABCC8 977
A
E
S
E
E
D
D
N
L
S
S
M
L
H
Q
R
A
E
I
P
W
A
A
K
Y
L
S
S
A
G
-
I
L
L
L
S
L
V
F
S
Q
L
L
K
M
V
L
V
A
I
D
Y
W
L
A
K
W
T
D
S
A
L
T
L
T
P
A
A
R
-
-
-
-
-
N
C
1050
ABCC9 959
E
E
E
D
E
D
D
N
M
S
T
V
M
R
L
R
T
K
M
P
W
K
T
C
W
R
Y
L
T
S
G
G
-
F
F
L
L
I
L
M
I
F
S
K
L
L
K
H
S
V
I
V
A
I
D
Y
W
L
A
T
W
T
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
E
Y
1022
ABCC10 892
L
L
L
M
Q
A
T
R
N
A
A
D
W
W
L
S
H
W
I
S
Q
L
K
A
E
N
S
S
Q
E
A
Q
-
P
S
T
S
P
A
S
M
G
L
F
S
P
Q
L
L
L
F
S
P
G
N
L
Y
I
P
V
F
P
L
P
K
A
-
-
-
-
-
-
-
-
-
-
-
-
A
P
958
ABCC11 770
N
A
V
P
E
H
Q
L
T
Q
E
E
E
M
E
E
G
S
L
S
W
R
V
Y
H
H
Y
I
Q
A
A
G
G
Y
M
V
S
C
I
I
F
F
F
V
V
L
I
V
F
L
T
I
F
S
F
W
W
L
S
Y
W
L
E
Q
G
S
G
T
S
S
R
E
S
G
T
M
A
D
849
ABCC12 759
T
K
V
P
E
H
Q
L
I
Q
T
E
S
P
Q
E
G
T
V
T
W
K
T
Y
H
T
Y
I
K
A
G
G
Y
L
L
S
L
F
T
V
F
L
F
L
L
M
I
G
S
A
A
F
S
N
W
W
L
G
L
W
L
D
K
G
S
R
M
T
C
G
P
Q
G
N
R
T
M
C
E
838