Mutations at homologous positions to ABCC8 p.Thr1130
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.Thr1130Ile
|
N
N
?
|
| ABCC1 |
p.Thr1082Ala
|
N
N
?
|
Mutations +/- 5 a.a. around the position:
| ABCC8 |
p.Cys1128Thr
|
N
N
?
|
| ABCC1 |
p.Asp1084Val
p.Asp1084Asn
p.Asp1084Ala
p.Asp1084Glu
p.Asp1084Arg
p.Ser1085Ala
|
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
N
N
?
|
| ABCC6 |
p.Ser1049Ala
p.Asp1056Glu
|
N
N
D
D
D
D
|
| ABCC7 |
p.Ser977Pro
p.Ser977Phe
p.Ser977Cys
p.Lys978Cys
p.Lys978Ser
p.Lys978Gln
p.Lys978Arg
p.Lys978Ala
p.Lys978Pro
p.Asp979Ala
p.Asp979Val
p.Asp979Arg
p.Asp979Glu
p.Ile980Lys
p.Asp985His
|
D
D
D
D
D
D
?
D
D
D
D
N
D
D
N
D
D
N
D
D
D
D
D
D
D
D
D
D
D
D
D
?
D
D
?
D
D
D
D
|
The alignment around the queried position:
ABCC8 1091
K
V
A
K
R
L
H
R
S
L
L
N
R
I
I
L
A
P
M
R
F
F
E
T
T
P
L
G
S
I
L
R
F
S
S
D
N
I
D
Q
H
I
P
S
T
L
E
L
S
R
S
T
C
V
S
A
L
A
V
I
S
Y
V
T
P
V
F
L
V
L
L
P
L
1170
ABCC1 1043
L
A
S
L
V
D
L
L
H
S
I
L
S
M
S
F
F
E
T
S
G
N
L
V
N
R
F
S
K
E
L
D
V
M
I
V
I
M
F
M
G
L
F
V
I
G
A
I
V
I
L
L
A
T
I
A
A
I
I
I
L
1122
ABCC2 1051
H
A
S
N
I
L
H
Q
L
L
N
I
L
A
M
R
F
F
D
T
T
P
T
G
R
I
V
N
R
F
A
G
D
I
S
T
V
D
D
T
L
P
Q
S
L
S
W
I
T
C
F
G
I
I
S
T
L
V
M
I
C
M
T
P
V
F
T
I
I
V
I
P
L
1130
ABCC3 1039
Q
A
A
R
V
L
H
Q
A
L
L
H
N
K
I
R
S
P
Q
S
F
F
D
T
T
P
S
G
R
I
L
N
C
F
S
K
D
I
Y
V
V
D
E
V
L
A
P
V
I
L
M
L
L
N
S
F
F
N
A
I
S
T
L
V
V
I
M
A
S
T
P
L
F
T
V
V
I
L
P
L
1118
ABCC4 792
N
S
Q
L
N
K
F
E
S
I
L
K
A
P
V
L
F
F
D
N
P
I
G
I
L
N
R
F
S
K
D
I
G
H
L
D
D
L
L
P
L
T
F
L
D
F
I
Q
T
L
L
Q
V
V
G
V
S
V
A
V
A
V
I
P
W
I
A
P
L
V
P
L
871
ABCC5 942
R
A
S
S
R
L
H
D
E
L
F
R
R
I
L
R
S
P
M
K
F
F
D
T
T
P
T
G
R
I
L
N
R
F
S
K
D
M
D
E
V
D
V
R
L
P
F
Q
A
E
M
F
I
Q
N
V
I
L
V
F
F
C
V
G
M
I
A
G
V
F
P
W
F
L
V
A
V
G
P
L
1021
ABCC6 1015
R
A
S
R
L
L
F
Q
R
L
W
D
V
V
S
P
I
S
F
F
E
R
T
P
I
H
L
L
N
R
F
K
E
T
D
T
V
V
D
I
P
D
K
S
L
L
M
Y
A
F
G
L
L
E
V
S
L
V
V
A
V
A
T
P
L
A
T
V
A
I
L
P
L
1094
ABCC7 943
T
V
I
L
L
P
T
L
N
K
A
G
I
N
F
A
I
L
D
L
L
P
L
T
F
I
Q
L
L
I
V
I
G
A
V
V
L
Q
I
V
A
T
V
1022
ABCC9 1063
T
A
A
K
N
L
H
H
N
L
L
N
I
I
L
G
P
I
R
F
F
D
T
T
P
L
G
L
I
L
N
R
F
S
A
D
T
N
I
I
D
Q
H
I
P
P
T
L
E
S
L
T
S
T
L
L
C
L
S
A
I
G
I
S
Y
A
T
P
V
F
L
V
A
L
L
P
L
1142
ABCC10 995
Q
A
A
A
L
H
R
R
L
L
H
R
V
L
M
A
P
V
T
F
F
N
A
T
P
T
G
R
I
L
N
R
F
S
S
D
V
A
C
A
D
D
S
L
P
F
I
L
N
I
L
L
A
N
A
G
L
L
G
L
L
A
V
L
G
S
G
L
P
W
L
L
L
L
L
P
P
L
1074
ABCC11 890
K
A
S
T
A
L
H
N
K
L
F
N
K
V
F
R
C
P
M
S
F
F
D
T
I
P
I
G
R
L
L
N
C
F
A
G
D
L
E
Q
L
D
Q
L
L
P
I
F
S
E
Q
F
L
V
L
S
L
M
V
I
A
V
L
L
I
V
S
V
L
S
P
Y
I
L
L
M
G
A
I
I
969
ABCC12 879
M
A
S
S
S
L
H
D
T
V
F
D
K
I
L
K
S
P
M
S
F
F
D
T
T
P
T
G
R
L
M
N
R
F
S
K
D
M
D
E
L
D
V
R
L
P
F
H
A
E
N
F
L
Q
Q
F
F
M
V
V
F
I
L
V
I
L
A
A
V
F
P
A
V
L
L
V
V
A
S
L
958