Mutations at homologous positions to ABCC8 p.Arg1250
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.Arg1250*
|
-
-
?
|
ABCC1 |
p.Arg1202Gly
p.Arg1202Leu
p.Arg1202Lys
p.Arg1202Asp
|
D
D
?
D
D
?
D
N
?
D
D
?
|
ABCC2 |
p.Arg1210Ala
|
D
D
?
|
ABCC7 |
p.Arg1102Glu
p.Arg1102Lys
p.Arg1102*
|
D
D
?
D
N
?
-
-
|
Mutations +/- 5 a.a. around the position:
ABCC8 |
p.Val1249Phe
p.Ile1254Val
|
N
D
?
N
N
?
|
ABCC1 |
p.Arg1197Glu
p.Arg1197Lys
p.Trp1198Phe
p.Trp1198Ala
p.Trp1198Tyr
p.Glu1204Asp
p.Glu1204Leu
p.Glu1204Lys
p.Cys1205Ser
p.Cys1205Ala
p.Gly1207Ser
p.Gly1207Asp
|
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
D
N
?
D
D
?
D
D
?
N
N
?
N
N
?
D
D
?
D
D
?
|
ABCC4 |
p.Cys956Ser
|
D
D
?
|
ABCC5 |
p.Arg1096Leu
p.Arg1096Lys
|
D
D
?
D
D
?
|
ABCC7 |
p.Trp1098Cys
p.Trp1098Arg
p.Trp1098*
p.Trp1098Leu
p.Phe1099Leu
p.Gln1100Pro
p.Met1101Lys
p.Met1101Arg
p.Glu1104Arg
p.Glu1104*
p.Glu1104Lys
p.Met1105Arg
p.Phe1107Leu
|
D
D
D
D
-
-
D
D
?
N
N
?
D
N
N
D
D
N
D
D
D
D
-
-
D
D
D
D
D
D
N
N
?
|
The alignment around the queried position:
ABCC8 1211
T
T
I
R
A
F
E
A
R
F
Q
K
L
E
T
D
S
N
N
I
A
L
F
L
T
A
A
N
R
W
L
E
M
E
Y
G
C
V
V
I
A
V
T
S
I
S
N
S
L
H
R
E
L
S
A
G
L
V
G
L
G
L
Y
A
L
1290
ABCC1 1163
S
I
A
F
E
E
Q
E
F
I
H
Q
S
L
V
N
Q
K
A
S
I
V
A
N
L
A
V
L
V
I
V
L
A
A
L
F
A
V
I
S
H
S
-
-
L
S
G
L
V
G
L
V
L
V
1240
ABCC2 1171
P
V
A
F
E
H
Q
Q
F
L
K
H
N
E
R
I
D
T
N
Q
K
C
V
F
S
W
I
T
S
N
R
W
L
A
I
L
E
L
V
G
N
L
T
V
F
F
S
A
L
M
M
V
I
Y
D
T
-
-
L
S
G
D
T
V
G
F
V
L
S
A
L
N
I
1248
ABCC3 1159
S
V
I
R
A
Y
N
R
S
R
D
F
E
I
S
D
T
K
V
D
A
N
Q
R
S
C
Y
P
Y
I
I
S
N
R
W
L
S
I
G
V
E
F
V
G
N
C
V
V
L
F
A
A
L
F
A
V
I
G
R
S
-
-
L
N
P
G
L
V
G
L
V
L
V
1236
ABCC4 912
W
T
I
R
A
Y
K
A
E
E
R
C
Q
E
L
F
D
A
H
Q
D
L
H
S
E
A
W
F
L
F
L
T
T
S
R
W
F
A
V
R
L
D
A
I
A
M
F
V
I
I
V
A
F
G
S
L
I
L
A
K
T
-
-
L
D
A
G
Q
V
G
L
A
L
S
Y
A
L
T
L
989
ABCC5 1062
A
T
I
H
A
Y
N
K
G
Q
E
F
L
H
R
Y
Q
E
L
L
D
D
N
Q
A
P
F
F
L
F
T
C
A
M
W
L
A
V
R
L
D
L
I
S
I
A
L
I
T
T
T
G
L
M
I
V
L
M
H
G
Q
-
-
I
P
P
A
Y
A
G
L
A
I
S
Y
A
V
Q
L
1139
ABCC6 1135
T
V
V
F
T
A
P
F
V
A
Q
N
N
A
R
V
D
E
S
Q
R
I
S
F
P
L
V
A
D
R
W
L
A
A
N
V
E
L
L
G
N
L
V
F
A
A
A
T
C
A
V
L
S
K
A
H
-
-
L
S
A
G
L
V
F
S
V
S
A
A
L
Q
V
1212
ABCC7 1063
E
T
F
H
L
N
L
F
L
S
T
R
I
I
-
-
-
G
1139
ABCC9 1183
T
T
I
R
A
F
R
H
E
T
R
F
K
Q
L
E
L
T
D
T
N
N
I
A
Y
L
F
L
S
A
A
N
R
W
L
E
V
R
T
D
Y
L
G
A
C
I
V
L
T
A
S
I
A
S
I
S
G
S
S
N
-
-
-
-
S
G
L
V
L
G
L
L
Y
A
L
T
I
1258
ABCC10 1115
S
V
L
R
A
T
G
A
T
Y
R
F
E
E
E
N
L
R
L
L
E
L
N
Q
R
C
Q
F
A
T
S
A
T
M
Q
W
L
D
I
R
L
Q
L
M
G
A
A
V
V
S
A
I
A
G
I
A
L
V
Q
H
Q
Q
G
L
A
N
P
G
L
V
G
L
S
L
S
A
L
S
L
1194
ABCC11 1010
S
S
I
H
V
Y
G
K
T
E
D
F
I
S
Q
F
K
R
L
T
D
A
Q
N
N
Y
L
L
L
F
L
S
S
T
R
W
M
A
L
R
L
E
I
M
T
N
L
V
T
L
A
V
A
L
F
V
A
F
G
I
S
S
-
-
T
P
Y
S
F
K
V
M
A
V
N
I
V
L
L
1087
ABCC12 999
G
I
I
H
A
Y
G
K
K
E
S
C
I
T
-
-
-
-
-
-
-
-
-
-
Y
H
L
L
Y
F
N
C
A
L
R
W
F
A
L
R
M
D
V
L
M
N
I
L
T
F
T
V
A
L
L
V
T
L
S
F
S
S
-
-
I
S
T
S
S
K
L
S
L
S
Y
I
I
Q
L
1066