Mutations at homologous positions to ABCC8 p.Asn406
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.Asn406Asp
|
D
N
?
|
| ABCC7 |
p.Val171Cys
|
N
N
?
|
Mutations +/- 5 a.a. around the position:
| ABCC8 |
p.His401Tyr
p.Ser405Asn
p.Ser408Glu
|
N
N
?
N
N
?
N
D
?
|
| ABCC2 |
p.Arg412Gly
|
D
D
?
|
| ABCC3 |
p.Ala403Cys
|
N
N
?
|
| ABCC4 |
p.Met184Thr
p.Met184Val
p.Gly187Trp
|
N
N
?
N
N
?
D
D
?
|
| ABCC6 |
p.Ser398Arg
|
D
D
D
|
| ABCC7 |
p.Lys166Glu
p.Leu167Arg
p.Arg170His
p.Arg170Cys
p.Arg170Leu
p.Leu172Cys
p.Ile175Val
|
D
N
D
D
N
N
D
D
?
D
D
?
N
N
?
N
N
|
The alignment around the queried position:
ABCC8 367
L
Q
T
F
L
Q
A
S
Y
Y
V
A
I
T
G
I
N
L
G
I
Q
T
K
I
Y
N
K
I
M
L
S
T
L
M
G
E
M
T
A
G
Q
I
N
L
V
A
I
D
T
Q
L
F
F
F
L
P
N
W
A
M
V
I
I
446
ABCC1 375
L
Q
T
L
V
L
H
Q
Y
F
H
I
F
V
S
M
I
T
A
V
G
A
V
Y
R
K
A
L
V
I
T
N
S
A
R
-
-
K
S
S
T
V
E
I
V
N
L
M
S
V
A
Q
F
M
L
A
T
N
I
S
A
L
Q
V
I
452
ABCC2 372
L
I
Q
S
F
C
L
Q
C
Y
F
Q
L
C
F
K
L
V
K
V
T
A
I
M
A
S
V
K
K
L
T
L
S
N
L
A
-
-
K
E
Y
T
E
V
N
L
M
S
V
D
A
Q
L
M
D
V
T
N
F
M
M
W
S
S
V
L
Q
V
449
ABCC3 361
M
M
Q
S
L
I
L
Q
H
Y
Y
H
Y
I
F
V
T
G
V
K
F
R
T
G
I
M
G
V
I
Y
R
K
A
L
V
I
T
N
S
V
K
-
-
R
S
T
V
G
E
I
V
N
L
M
S
V
D
A
Q
R
F
M
D
L
A
P
F
L
N
L
L
W
S
A
P
L
Q
I
I
438
ABCC4 146
L
I
L
A
I
L
H
H
L
Y
F
Y
H
Q
C
A
G
M
R
L
R
V
A
M
I
Y
R
K
A
L
R
L
S
N
A
M
-
-
K
T
T
T
G
Q
I
V
N
L
L
S
N
D
V
N
K
F
D
Q
V
T
V
F
L
H
F
L
W
A
G
P
L
Q
A
I
223
ABCC5 230
I
V
R
S
W
S
L
A
L
T
W
A
L
N
Y
R
T
G
V
R
L
R
G
A
I
L
T
M
A
F
K
K
I
L
K
L
K
N
I
K
E
-
-
-
-
K
S
L
G
E
L
I
N
I
C
S
N
D
G
Q
R
M
F
E
A
A
A
V
G
S
L
L
A
G
G
P
V
V
A
I
305
ABCC6 361
C
L
L
F
E
Q
Q
M
Y
R
L
K
V
L
M
R
L
S
A
I
T
G
L
V
Y
V
L
A
L
S
G
S
R
-
-
K
A
S
A
V
G
D
V
V
L
V
S
D
Q
L
T
S
V
L
Y
L
G
L
W
L
P
L
V
W
I
438
ABCC7 132
V
T
I
F
G
L
H
H
I
A
I
K
K
S
S
D
-
-
K
S
L
V
L
S
L
A
V
209
ABCC9 363
I
L
Q
R
T
F
L
Q
A
S
Y
Y
V
T
I
E
T
I
N
L
R
G
A
L
L
A
M
I
Y
N
K
I
L
R
L
S
T
S
N
L
S
M
G
E
M
T
L
G
Q
I
N
N
L
V
A
I
E
T
N
Q
L
M
W
F
L
F
L
C
N
L
W
A
M
P
V
Q
I
I
442
ABCC10 335
V
L
G
A
V
L
Q
N
Q
Y
G
Y
E
V
Y
K
V
T
L
Q
A
R
G
A
V
L
N
I
L
Y
C
K
A
L
Q
L
G
P
S
-
-
-
-
-
R
P
P
T
G
E
A
L
N
L
L
G
T
D
S
E
R
L
L
N
F
A
G
S
F
H
E
A
W
G
L
P
L
Q
L
A
409
ABCC11 214
C
V
K
S
L
S
F
S
S
S
W
I
I
N
Q
R
T
A
I
R
F
R
A
V
S
S
F
A
F
E
K
L
I
Q
F
K
S
V
I
H
-
-
-
-
I
T
S
G
E
A
I
S
F
F
T
G
D
V
N
Y
L
F
E
G
V
C
Y
G
P
L
V
L
I
T
C
A
S
L
V
289
ABCC12 174
F
T
K
V
F
F
W
A
L
A
W
A
I
N
Y
R
T
A
I
R
L
K
V
A
L
S
T
L
V
F
E
N
L
V
S
F
K
T
L
T
H
-
-
-
-
I
S
V
G
E
V
L
N
I
L
S
S
D
S
Y
S
L
F
E
A
A
L
F
C
P
L
P
A
T
I
P
I
L
M
V
249