Mutations at homologous positions to ABCC8 p.Gln1190
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.Gln1190Glu
|
N
N
?
|
| ABCC1 |
p.Arg1142Glu
p.Arg1142Lys
|
D
D
?
D
D
?
|
| ABCC2 |
p.Arg1150His
|
N
D
?
|
| ABCC3 |
p.Arg1138Gln
|
D
D
?
|
| ABCC6 |
p.Arg1114Pro
p.Arg1114His
p.Arg1114Cys
|
D
D
D
D
D
D
D
D
D
|
| ABCC7 |
p.Gln1042*
|
-
-
|
Mutations +/- 5 a.a. around the position:
| ABCC8 |
p.Ser1185Ala
p.Asp1193Val
|
N
N
?
D
D
?
|
| ABCC1 |
p.Ser1137Cys
p.Arg1138Lys
p.Arg1138Glu
p.Arg1138Gln
p.Lys1141Arg
p.Lys1141Glu
p.Glu1144Ala
p.Val1146Ile
|
D
D
?
D
D
?
D
D
?
D
D
?
D
N
?
D
D
?
N
D
?
D
N
?
|
| ABCC11 |
p.Asn992Ser
|
N
D
?
|
| ABCC7 |
p.Lys1041Arg
p.Lys1041Cys
p.Ser1045Tyr
p.Glu1046*
p.Gly1047Arg
|
D
N
?
D
D
?
D
D
?
-
-
?
D
N
|
The alignment around the queried position:
ABCC8 1151
S
A
L
A
V
I
S
Y
V
T
P
V
F
L
V
L
L
P
L
A
I
V
Y
F
I
K
Y
F
V
R
D
L
Q
L
D
T
T
L
L
L
H
F
E
T
V
E
G
T
T
I
R
A
F
E
A
R
F
Q
K
L
E
T
1230
ABCC1 1103
G
A
I
V
I
L
L
A
T
I
A
A
I
I
I
L
G
L
I
Y
F
F
V
Q
F
Y
V
A
S
Q
L
L
S
S
R
S
V
Y
S
H
F
T
L
L
V
S
I
A
F
E
E
Q
E
F
I
H
Q
S
L
V
1182
ABCC2 1111
S
T
L
V
M
I
C
M
T
P
V
F
T
I
I
V
I
P
L
G
I
I
Y
V
S
V
Q
M
F
Y
V
S
T
S
R
Q
L
R
L
D
S
V
T
R
S
I
Y
S
H
F
S
E
T
V
S
G
L
P
V
A
F
E
H
Q
Q
F
L
K
H
N
E
R
I
1190
ABCC3 1099
S
T
L
V
V
I
M
A
S
T
P
L
F
T
V
V
I
L
P
L
A
V
L
Y
T
L
V
Q
R
F
Y
A
A
T
S
R
Q
L
K
L
E
S
V
S
R
S
P
I
Y
S
H
F
S
E
T
V
T
G
A
S
V
I
R
A
Y
N
R
S
R
D
F
E
I
S
D
T
K
V
1178
ABCC4 852
G
V
S
V
A
V
A
V
I
P
W
I
A
P
L
V
P
L
G
I
I
F
I
F
L
R
R
Y
F
L
E
T
S
R
D
V
K
R
L
E
S
T
T
R
S
P
F
S
H
L
S
S
S
L
Q
G
L
W
T
I
R
A
Y
K
A
E
E
R
C
Q
E
L
F
D
A
H
Q
931
ABCC5 1002
F
C
V
G
M
I
A
G
V
F
P
W
F
L
V
A
V
G
P
L
V
I
L
F
S
V
L
H
I
V
S
R
V
L
I
R
E
L
K
R
L
D
N
I
T
Q
S
P
F
L
S
H
I
T
S
S
I
Q
G
L
A
T
I
H
A
Y
N
K
G
Q
E
F
L
H
R
Y
Q
E
L
L
1081
ABCC6 1075
E
V
S
L
V
V
A
V
A
T
P
L
A
T
V
A
I
L
P
L
F
L
L
Y
A
G
F
Q
S
L
Y
V
V
S
S
C
Q
L
R
L
E
S
A
S
Y
S
V
C
S
H
A
E
F
Q
S
T
V
V
F
T
A
P
F
V
A
Q
N
N
A
R
V
1154
ABCC7 1003
G
A
V
V
L
Q
I
V
A
T
V
V
F
L
A
F
L
Q
S
Q
Q
L
L
E
S
P
I
L
S
L
E
T
F
H
L
1082
ABCC9 1123
S
A
I
G
I
S
Y
A
T
P
V
F
L
V
A
L
L
P
L
G
V
A
F
Y
F
I
Q
K
Y
F
V
A
S
K
D
L
Q
E
L
D
D
S
T
Q
L
P
L
L
C
H
F
S
E
T
A
E
G
L
T
T
I
R
A
F
R
H
E
T
R
F
K
Q
L
E
L
T
1202
ABCC10 1055
G
L
L
A
V
L
G
S
G
L
P
W
L
L
L
L
L
P
P
L
S
I
M
Y
Y
H
V
Q
R
H
Y
R
A
S
S
R
E
L
R
R
L
G
S
L
T
L
S
P
L
Y
S
H
L
A
D
T
L
A
G
L
S
V
L
R
A
T
G
A
T
Y
R
F
E
E
E
N
L
R
L
L
1134
ABCC11 950
A
V
L
L
I
V
S
V
L
S
P
Y
I
L
L
M
G
A
I
I
M
V
I
C
F
I
Y
Y
M
M
F
K
K
A
I
G
V
F
K
R
L
E
Y
S
R
S
P
L
F
S
H
I
L
N
S
L
Q
G
L
S
S
I
H
V
Y
G
K
T
E
D
F
I
S
Q
F
K
R
L
T
1029
ABCC12 939
F
I
L
V
I
L
A
A
V
F
P
A
V
L
L
V
V
A
S
L
A
V
G
F
F
I
L
L
R
I
F
H
R
G
V
Q
E
L
K
K
V
E
N
V
S
R
S
P
W
F
T
H
I
T
S
S
M
Q
G
L
G
I
I
H
A
Y
G
K
K
E
S
C
I
T
-
-
-
-
-
-
1013