Mutations at homologous positions to ABCC8 p.Val1290
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.Val1290Gln
|
D
D
?
|
| ABCC7 |
p.Ile1139Val
p.Ile1139Cys
p.Ile1139Ala
|
N
N
D
D
?
D
D
?
|
Mutations +/- 5 a.a. around the position:
| ABCC8 |
p.Thr1285Leu
p.Met1289Thr
p.Met1289Leu
|
D
D
?
D
N
?
D
N
?
|
| ABCC1 |
p.Ser1235Ala
p.Tyr1236Phe
p.Tyr1236Trp
p.Ser1237Ala
p.Gln1239Ala
p.Thr1241Ala
p.Thr1242Ala
p.Thr1242Cys
p.Thr1242Ser
p.Thr1242Asp
p.Thr1242Lys
p.Thr1242Leu
p.Tyr1243Phe
p.Asn1245Ala
|
D
N
?
D
D
?
D
D
?
N
N
?
D
D
?
D
D
?
N
N
?
N
N
?
N
N
?
N
N
?
N
N
?
N
N
?
D
N
?
D
D
?
|
| ABCC10 |
p.Tyr1190Ala
|
D
D
?
|
| ABCC11 |
p.Gln1086Glu
|
D
D
?
|
| ABCC2 |
p.Asn1244Lys
|
D
N
?
|
| ABCC3 |
p.Ser1231Ala
p.Tyr1232Phe
p.Ser1233Ala
p.Gln1235Ala
p.Thr1237Ala
p.Thr1237Ser
p.Thr1237Leu
p.Thr1237Gly
p.Asn1241Ala
|
D
N
?
D
D
?
N
N
?
D
D
?
D
D
?
N
D
?
D
D
?
D
D
?
D
D
?
|
| ABCC7 |
p.Thr1134Phe
p.Thr1134Ala
p.Thr1134Glu
p.Thr1134Cys
p.Leu1135Cys
p.Leu1135Ala
p.Ala1136Thr
p.Ala1136Cys
p.Ala1136Ser
p.Met1137Ala
p.Met1137Val
p.Met1137Arg
p.Met1137Cys
p.Met1137Thr
p.Asn1138Ala
p.Asn1138Cys
p.Met1140Lys
p.Met1140Cys
p.Met1140Ile
p.Met1140Ala
p.Met1140Leu
p.Ser1141Ala
p.Ser1141Lys
p.Ser1141Cys
p.Ser1141Arg
p.Thr1142Ala
p.Thr1142Cys
p.Thr1142Phe
p.Thr1142Ile
p.Leu1143Cys
p.Leu1143Ala
p.Gln1144Cys
p.Gln1144Ala
|
D
D
?
N
N
?
D
N
?
D
N
?
N
N
?
N
N
?
N
N
?
D
D
?
N
N
?
D
D
?
N
N
D
D
D
D
?
D
D
?
D
N
?
D
D
?
D
N
D
N
?
D
N
?
D
N
?
D
N
?
N
N
?
D
N
?
N
N
?
D
N
?
D
N
?
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
|
The alignment around the queried position:
ABCC8 1251
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
S
N
Y
L
N
W
M
V
R
N
L
A
D
M
L
Q
L
G
A
V
K
R
I
H
L
L
K
T
E
A
-
-
-
-
-
-
-
1324
ABCC1 1203
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
L
L
V
M
S
S
E
M
E
T
N
I
V
A
V
E
R
L
K
E
S
E
T
E
K
E
-
-
-
-
-
-
-
1274
ABCC2 1211
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
T
Q
T
L
N
L
V
M
T
S
E
I
E
T
N
I
V
A
V
E
R
I
E
T
K
V
E
N
E
-
-
-
-
-
-
-
1282
ABCC3 1199
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
F
A
L
M
I
R
M
M
S
D
L
E
S
N
I
V
A
V
E
R
V
K
E
Y
S
K
T
E
T
E
-
-
-
-
-
-
-
1270
ABCC4 952
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
M
G
M
F
Q
C
V
Q
S
A
E
V
E
N
M
M
I
S
V
E
R
V
I
E
Y
T
D
L
E
K
E
-
-
-
-
-
-
-
1023
ABCC5 1102
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
T
G
L
F
Q
F
T
V
R
L
A
S
E
T
E
A
R
F
T
S
V
E
R
I
N
H
Y
I
K
T
L
S
L
-
-
-
-
-
-
-
1173
ABCC6 1175
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
T
Q
T
L
Q
W
V
V
N
T
D
E
N
S
I
V
S
V
M
A
T
P
K
-
-
-
-
-
-
-
1246
ABCC7 1103
I
I
-
-
-
G
S
M
V
V
F
F
I
M
P
T
E
K
P
T
S
T
1179
ABCC9 1223
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
T
N
Y
L
N
W
V
V
R
N
L
A
D
L
E
V
Q
M
G
A
V
K
K
V
N
S
F
L
T
M
E
S
E
-
-
-
-
-
-
-
1292
ABCC10 1155
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
T
G
L
L
S
G
L
V
S
S
F
T
Q
T
E
A
M
L
V
S
V
E
R
L
E
E
Y
T
C
D
L
P
Q
-
-
-
-
-
-
-
1228
ABCC11 1050
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
A
S
S
F
Q
A
T
A
I
G
L
E
T
E
A
Q
F
T
A
V
E
R
I
L
Q
Y
M
K
M
C
V
S
-
-
-
-
-
-
-
1121
ABCC12 1029
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
S
G
L
L
Q
V
C
V
R
T
G
T
E
T
Q
A
K
F
T
S
V
E
L
L
R
E
Y
I
S
T
C
V
P
-
-
-
-
-
-
-
1100