Mutations at homologous positions to ABCC8 p.Gly228
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.Gly228Asp
|
N
N
?
|
| ABCC11 |
p.Leu95Ala
|
N
N
?
|
| ABCC7 |
p.Leu15Pro
|
D
D
?
|
Mutations +/- 5 a.a. around the position:
| ABCC8 |
p.Leu225Pro
p.Thr229Ile
p.Tyr230Ala
p.Trp231Ala
p.Trp231Arg
p.Trp232Ala
p.Trp232Gly
p.Met233Thr
p.Met233Arg
|
D
N
D
N
D
?
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
|
| ABCC1 |
p.Trp222Leu
p.Trp223Leu
|
N
D
?
D
D
?
|
| ABCC2 |
p.Trp208Arg
p.Trp208Gly
|
D
D
?
D
D
?
|
| ABCC4 |
p.Leu18Ile
|
N
N
?
|
| ABCC6 |
p.Trp218Cys
|
D
D
D
|
| ABCC7 |
p.Val11Ile
p.Val11Cys
p.Ser13Phe
p.Ser13Ala
p.Ser13Tyr
p.Ser13Cys
p.Lys14*
p.Lys14Arg
p.Trp19Cys
p.Trp19*
|
N
N
?
N
N
?
D
D
D
N
?
D
D
?
D
D
?
-
-
N
N
?
D
D
-
-
?
|
The alignment around the queried position:
ABCC8 189
V
I
V
R
I
F
F
V
R
L
Q
P
N
L
S
K
N
A
F
I
K
T
A
H
K
P
I
D
-
L
A
I
K
L
I
A
M
R
L
T
N
Q
R
267
ABCC1 188
L
S
F
S
D
R
S
L
F
E
T
I
H
D
N
-
-
-
-
-
-
-
-
E
S
S
A
S
F
L
S
R
I
T
F
I
T
G
L
I
V
G
Y
R
Q
L
E
-
G
S
D
L
S
L
N
K
E
E
Q
V
V
V
L
V
258
ABCC2 181
F
S
A
F
E
-
-
-
-
-
-
-
-
N
N
E
S
S
N
-
-
-
-
-
-
-
-
N
P
S
S
I
A
S
F
L
S
S
I
T
Y
S
Y
D
S
I
I
L
K
G
Y
K
R
P
L
T
-
L
E
D
V
W
E
V
D
E
E
K
T
K
T
L
V
S
K
F
E
243
ABCC3 187
L
A
C
F
R
E
K
P
P
F
F
S
A
K
N
V
D
P
N
P
-
-
-
-
-
-
-
-
Y
P
E
T
S
A
G
F
L
S
R
L
F
F
W
W
F
T
K
M
A
I
Y
G
Y
R
H
P
L
E
-
E
K
D
L
W
S
L
K
E
E
D
S
Q
M
V
V
Q
Q
L
L
257
ABCC4 16
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
A
N
C
S
R
V
F
F
W
W
L
N
P
L
F
K
I
G
K
R
R
L
E
-
E
D
D
M
Y
V
L
P
E
D
R
S
Q
H
L
G
E
E
L
Q
61
ABCC5 104
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
A
G
L
F
S
C
M
T
F
S
W
L
S
S
L
A
R
V
A
H
K
K
G
E
L
S
M
E
D
V
W
S
L
S
K
H
E
S
S
V
N
C
R
R
L
E
150
ABCC6 183
L
S
C
L
A
D
Q
P
P
F
F
P
E
D
P
Q
S
N
P
-
-
-
-
-
-
-
-
C
P
E
T
A
A
F
P
S
K
A
T
F
W
V
S
G
L
V
W
R
R
R
P
L
R
-
P
K
D
L
W
S
L
G
R
N
S
E
E
V
S
R
E
253
ABCC7 11
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
V
F
F
S
T
R
P
I
R
K
Y
E
-
L
S
I
I
P
V
S
N
E
K
L
54
ABCC9 187
V
I
R
V
R
R
Y
V
F
F
M
N
P
Q
K
V
K
P
P
E
L
Q
D
L
G
V
R
F
L
Q
P
F
V
N
L
L
S
K
A
T
Y
W
W
M
N
T
L
I
I
S
A
H
K
K
P
I
D
-
L
K
A
I
G
K
L
P
I
A
M
R
A
V
T
N
Y
V
C
L
K
265
ABCC10 187
L
G
W
A
A
P
G
G
P
R
E
P
W
A
Q
E
P
L
L
P
E
D
Q
E
P
-
-
E
V
A
E
D
G
E
S
W
L
S
R
F
S
Y
A
W
L
A
P
L
L
A
R
G
A
C
G
E
L
R
Q
P
Q
D
I
C
R
L
P
H
R
L
Q
P
T
Y
L
A
R
V
F
Q
264
ABCC11 89
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
A
G
L
F
S
Y
T
V
S
W
L
T
P
L
M
I
Q
S
L
R
S
R
-
L
D
E
N
T
I
P
P
L
S
V
H
D
A
S
D
K
N
V
Q
R
L
H
134
ABCC12 49
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
A
G
L
L
S
F
A
T
F
S
W
L
T
P
V
M
V
K
G
Y
R
Q
R
-
L
T
V
D
T
L
P
P
L
S
T
Y
D
S
S
D
T
N
A
K
R
F
R
94