Mutations at homologous positions to ABCC8 p.Val343
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.Val343Gly
|
N
N
?
|
| ABCC7 |
p.Asp112Gly
p.Asp112Arg
|
N
N
?
N
N
?
|
Mutations +/- 5 a.a. around the position:
| ABCC8 |
p.Thr338Ala
|
N
N
?
|
| ABCC1 |
p.Lys351Asn
p.Val353Met
p.Pro359Ala
p.Asp360Lys
|
N
N
?
N
N
?
D
D
?
N
N
?
|
| ABCC2 |
p.Arg353His
|
N
N
?
|
| ABCC3 |
p.Ser346Phe
p.Ser346Ile
|
D
D
?
N
N
?
|
| ABCC7 |
p.Ala107Val
p.Ala107Cys
p.Ser108Phe
p.Ser108Cys
p.Tyr109Cys
p.Tyr109Asn
p.Tyr109*
p.Asp110Tyr
p.Asp110His
p.Asp110Glu
p.Asp110Asn
p.Asp110Cys
p.Asp110Arg
p.Pro111Leu
p.Pro111Ala
p.Lys114Glu
p.Lys114Cys
p.Lys114Asp
p.Glu115Lys
p.Glu115Ser
p.Glu115Arg
p.Glu116Lys
p.Glu116*
p.Glu116Arg
p.Glu116Cys
p.Glu116Asp
p.Arg117His
p.Arg117Leu
p.Arg117Cys
p.Arg117Pro
p.Arg117Glu
p.Arg117Gln
p.Arg117Gly
p.Arg117Met
p.Arg117Thr
p.Arg117Ala
p.Arg117Lys
|
N
N
?
N
N
?
N
N
N
D
?
D
D
D
D
D
-
-
D
N
D
N
D
D
N
D
N
D
D
D
D
D
N
D
N
D
D
N
N
N
?
D
N
?
N
N
?
N
N
?
N
N
?
N
N
?
N
N
-
-
?
N
N
?
D
D
?
N
N
?
N
N
D
D
N
D
D
D
D
N
D
N
D
D
N
D
D
N
D
N
D
D
N
D
D
N
D
D
N
D
|
The alignment around the queried position:
ABCC8 304
T
F
I
L
L
L
G
F
A
G
P
L
C
I
F
G
I
D
L
K
E
N
D
F
Q
P
Q
F
L
G
Y
F
V
S
S
Q
E
F
L
A
N
V
L
A
V
L
L
F
L
L
L
Q
T
F
L
Q
A
S
Y
Y
V
A
I
T
383
ABCC1 330
F
F
A
I
L
M
M
F
S
G
Q
I
L
L
L
I
F
N
D
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
T
K
A
Q
G
Y
F
Y
T
V
L
F
V
T
A
L
Q
T
L
V
L
H
Q
Y
F
H
I
F
V
S
391
ABCC2 327
L
L
L
V
N
I
F
T
F
V
S
P
Q
L
L
K
L
L
I
S
F
A
S
D
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
D
T
Y
L
W
I
G
Y
L
A
I
L
L
T
A
A
L
I
Q
S
F
C
L
Q
C
Y
F
Q
L
C
F
K
L
388
ABCC3 316
C
F
K
L
I
Q
D
L
L
S
F
I
N
P
Q
L
L
S
I
L
I
R
F
I
S
N
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
P
M
A
P
W
W
G
F
L
V
A
G
L
M
F
L
C
S
M
M
Q
S
L
I
L
Q
H
Y
Y
H
Y
I
F
V
T
377
ABCC4 97
I
F
T
L
I
E
E
S
A
K
V
I
Q
P
I
F
L
G
K
I
I
N
Y
F
E
N
Y
D
P
-
-
-
-
-
-
-
-
-
-
-
-
-
-
M
D
S
V
A
L
N
T
Y
A
Y
A
T
V
L
T
F
C
T
L
I
L
A
I
L
H
H
L
Y
F
Y
H
Q
C
A
162
ABCC5 184
V
C
L
M
I
T
Q
L
A
G
F
S
G
P
A
F
M
V
K
H
L
L
E
Y
T
Q
A
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
T
E
S
N
L
Q
Y
S
L
L
L
V
L
G
L
L
L
T
E
I
V
R
S
W
S
L
A
L
T
W
A
L
N
Y
R
T
246
ABCC6 316
L
L
I
S
D
V
F
R
F
T
V
P
K
L
L
S
L
F
L
E
F
I
G
D
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
P
K
P
P
A
W
K
G
Y
L
L
A
V
M
F
L
S
A
C
L
L
F
E
Q
Q
M
Y
R
L
K
V
L
377
ABCC7 86
I
V
L
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
N
I
I
L
G
L
L
L
F
V
T
I
F
G
L
H
H
148
ABCC9 302
T
F
R
Y
L
A
D
L
L
G
F
A
G
P
L
C
I
S
G
I
V
Q
R
V
N
E
T
Q
N
G
T
N
N
T
T
G
I
S
-
-
E
T
L
S
S
K
E
F
L
E
N
A
Y
V
L
A
V
L
L
F
L
A
L
I
L
Q
R
T
F
L
Q
A
S
Y
Y
V
T
I
E
T
379
ABCC10 290
L
L
K
L
V
G
T
M
L
G
F
S
G
P
L
L
L
S
L
L
V
G
F
L
E
E
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
G
Q
E
P
L
S
G
L
L
Y
A
L
G
L
A
G
G
A
V
L
G
A
V
L
Q
N
Q
Y
G
Y
E
V
Y
K
V
351
ABCC11 168
L
L
G
I
C
F
C
I
A
S
V
L
P
I
L
I
I
P
K
I
L
E
Y
S
E
E
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
Q
L
G
N
V
V
H
G
V
G
L
C
F
A
L
F
L
S
E
C
V
K
S
L
S
F
S
S
S
W
I
I
N
Q
R
T
230
ABCC12 128
V
A
N
I
L
C
I
I
M
A
A
I
G
P
V
I
L
I
H
Q
I
L
Q
Q
T
E
R
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
T
S
G
K
V
W
V
G
I
G
L
C
I
A
L
F
A
T
E
F
T
K
V
F
F
W
A
L
A
W
A
I
N
Y
R
T
190