Mutations at homologous positions to ABCC8 p.Phe132
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.Phe132Leu
p.Phe132Val
|
N
N
D
N
N
D
|
Mutations +/- 5 a.a. around the position:
| ABCC8 |
p.Glu128Lys
p.Glu128Trp
p.Glu128*
p.Glu128Cys
p.Glu128Arg
p.Glu128Asp
p.Leu135Pro
p.Leu135Val
p.Leu136Ala
|
D
D
?
D
D
?
-
-
?
D
D
?
D
D
?
D
N
?
D
D
D
N
N
?
N
N
?
|
| ABCC10 |
p.Gly128Cys
|
N
N
?
|
| ABCC2 |
p.Arg121*
p.Gln122Arg
|
-
-
?
N
N
?
|
| ABCC4 |
p.Leu18Ile
|
N
N
?
|
| ABCC6 |
p.Glu125Lys
p.Glu125*
p.Gly129Glu
|
D
D
D
-
-
D
D
D
D
|
| ABCC7 |
p.Pro5Leu
p.Val11Ile
p.Val11Cys
p.Ser13Phe
p.Ser13Ala
p.Ser13Tyr
p.Ser13Cys
p.Lys14*
p.Lys14Arg
p.Leu15Pro
|
D
D
D
N
N
?
N
N
?
D
D
D
N
?
D
D
?
D
D
?
-
-
N
N
?
D
D
?
|
The alignment around the queried position:
ABCC8 96
G
V
S
H
H
L
L
Y
M
P
-
-
-
A
M
F
M
A
T
V
V
Y
Y
N
I
T
S
N
P
K
I
A
L
L
V
Y
L
F
I
T
K
T
K
F
V
K
F
L
D
G
F
Q
L
L
T
172
ABCC1 96
R
R
G
I
F
A
F
L
S
-
-
-
T
L
L
G
I
T
M
L
L
A
T
F
L
I
Q
L
E
R
R
K
G
V
Q
-
S
S
G
I
M
L
F
L
V
A
L
V
L
A
L
R
S
K
I
M
T
A
L
K
E
D
A
Q
V
D
L
F
R
171
ABCC2 90
D
S
-
G
Q
A
T
V
P
A
V
Y
T
-
-
-
N
P
S
L
Y
L
G
T
W
L
L
V
L
L
I
Q
Y
S
W
C
V
Q
K
N
S
W
F
L
S
L
F
W
I
L
S
I
L
C
G
T
F
Q
F
Q
T
-
L
I
R
T
L
L
Q
G
D
N
S
N
L
A
Y
164
ABCC3 95
L
V
H
G
A
P
A
P
F
F
V
T
-
-
-
P
L
V
V
G
V
T
M
L
L
A
T
L
L
I
Q
Y
E
R
L
Q
G
V
Q
-
S
S
G
V
L
I
I
F
W
F
L
C
V
V
C
A
I
V
P
F
R
S
K
I
L
L
A
K
A
E
G
E
I
S
P
F
R
170
ABCC4 1
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
M
L
P
V
Y
Q
E
V
K
P
N
P
L
Q
D
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
16
ABCC5 43
L
E
C
Q
D
A
L
E
T
A
A
R
A
-
-
-
-
-
-
-
-
-
-
-
-
-
E
G
L
S
L
D
A
S
M
H
S
Q
L
R
I
L
D
E
E
H
P
K
G
K
Y
H
H
G
L
S
A
L
K
P
I
R
T
T
S
K
H
-
-
Q
H
P
V
D
N
-
-
-
-
104
ABCC6 94
I
Q
Q
G
T
P
E
A
P
E
F
L
I
H
-
-
-
P
T
V
W
L
T
T
M
S
F
A
V
F
L
I
H
T
R
K
K
V
Q
-
S
S
G
V
L
F
G
Y
W
L
L
C
F
V
L
P
A
T
N
A
A
Q
-
-
-
A
S
G
A
G
F
Q
S
D
P
V
166
ABCC7 1
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
Q
S
L
E
K
A
S
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
11
ABCC9 94
D
S
R
R
E
S
R
H
L
H
L
F
M
P
-
-
-
A
V
M
G
F
V
A
T
T
T
S
I
V
Y
Y
H
N
I
E
T
S
N
F
P
K
L
L
L
A
L
F
L
Y
W
V
M
A
F
T
K
T
I
K
L
V
K
Y
C
Q
S
G
L
D
I
S
N
L
R
F
C
I
T
170
ABCC10 91
P
G
A
G
P
G
P
I
G
L
E
V
L
A
G
C
V
A
A
V
A
W
I
S
H
S
L
A
L
W
V
L
A
H
S
P
H
H
S
R
G
P
L
A
L
L
V
A
L
L
P
A
P
A
L
V
L
T
V
L
W
H
C
Q
R
G
T
L
L
P
P
L
L
P
G
P
M
A
170
ABCC11 26
D
M
V
S
G
L
I
Y
K
T
Y
T
L
Q
-
-
-
-
-
-
-
-
-
-
-
-
-
D
G
P
W
S
Q
Q
E
R
N
P
E
A
P
G
R
A
A
V
P
P
W
G
K
Y
D
A
A
L
R
T
M
I
P
F
R
P
K
P
R
F
P
A
P
Q
P
L
D
N
-
-
-
-
89
ABCC12 1
-
M
V
G
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
E
G
P
Y
L
I
S
D
L
D
Q
R
G
R
R
R
S
F
A
-
-
-
E
R
Y
D
P
S
L
K
T
M
I
P
V
R
P
C
A
R
L
-
A
P
N
P
V
D
D
-
-
-
-
49