Mutations at homologous positions to ABCC8 p.Arg825
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.Arg825Trp
|
D
D
?
|
| ABCC2 |
p.Lys757Glu
|
D
D
?
|
| ABCC4 |
p.Arg531Gln
|
D
D
?
|
| ABCC6 |
p.Gln749*
|
-
-
D
|
| ABCC7 |
p.Gly542*
p.Gly542Asp
p.Gly542Trp
|
-
-
D
D
D
D
D
D
D
|
Mutations +/- 5 a.a. around the position:
| ABCC8 |
p.Ser830Arg
|
D
D
?
|
| ABCC1 |
p.Leu768Arg
|
D
D
?
|
| ABCC3 |
p.Thr742Cys
|
D
D
?
|
| ABCC6 |
p.Met751Lys
|
D
D
D
|
| ABCC7 |
p.Asp537Asn
p.Asp537Glu
p.Asp537Phe
p.Ile539Thr
p.Leu541Pro
p.Glu543Cys
p.Glu543Ala
p.Gly544Ser
p.Gly544Val
p.Thr547Cys
|
D
D
?
D
D
D
D
?
N
N
?
D
D
?
D
D
?
D
D
?
D
N
?
D
D
D
D
?
|
The alignment around the queried position:
978ABCC8 786
N
I
I
F
E
S
P
F
N
K
Q
R
Y
K
M
V
I
E
A
S
L
P
D
I
D
I
H
G
Q
T
Q
I
G
E
G
I
N
L
G
G
Q
Q
I
S
V
A
A
L
Y
Q
H
A
N
V
V
F
L
P
F
S
A
L
I
H
L
S
D
865
ABCC1 725
N
I
L
G
Q
L
E
E
P
Y
Y
R
S
V
I
Q
A
A
L
L
P
D
L
E
I
L
P
S
D
R
T
E
I
G
E
K
G
V
N
S
G
Q
K
Q
R
V
S
L
A
R
A
Y
S
N
A
D
I
Y
L
F
L
S
A
V
D
A
H
V
G
K
804
ABCC2 718
I
L
F
T
E
F
N
E
K
R
Y
Q
Q
V
L
E
A
C
A
L
P
D
L
E
M
L
P
G
G
D
L
A
E
I
G
E
G
I
N
L
S
G
G
Q
K
Q
I
S
L
A
R
A
T
Y
Q
N
L
D
I
Y
L
L
D
P
L
A
V
A
H
V
G
K
797
ABCC3 708
N
V
L
F
G
K
A
L
N
P
R
Y
Q
Q
T
L
E
A
C
A
L
L
A
D
L
E
M
L
P
G
G
D
Q
E
I
G
E
K
G
I
N
L
S
G
G
Q
R
Q
R
V
S
L
A
R
A
Y
S
D
A
I
F
L
L
D
D
P
L
S
A
V
D
S
H
V
A
K
787
ABCC4 492
N
I
L
F
G
K
Y
E
K
E
R
Y
E
K
V
I
K
A
C
A
L
K
K
D
L
Q
L
L
E
D
G
D
L
T
V
I
G
D
G
T
T
L
S
G
Q
K
A
R
V
N
L
A
R
V
Y
Q
D
A
D
I
L
D
D
P
L
S
A
V
D
A
E
V
S
R
571
ABCC5 642
N
I
L
F
G
K
E
Y
D
E
E
R
Y
N
S
V
L
N
S
C
C
L
R
P
D
L
A
I
L
P
S
S
D
L
T
E
I
G
E
R
G
A
N
L
S
G
G
Q
R
Q
R
I
S
L
A
R
A
L
Y
S
D
R
S
I
Y
I
L
D
D
P
L
S
A
L
D
A
H
V
G
N
721
ABCC6 710
N
V
C
F
G
Q
E
L
P
P
W
L
E
V
E
A
C
A
L
Q
P
D
V
D
S
F
P
E
G
H
T
S
I
G
E
G
N
L
S
G
Q
K
Q
L
S
L
A
V
K
A
A
V
Y
L
L
D
P
L
A
L
D
A
H
G
Q
789
ABCC7 503
K
G
D
E
K
A
E
N
V
G
I
S
L
V
582
ABCC9 769
N
I
T
F
G
S
P
F
N
K
Q
R
Y
K
A
V
T
D
A
C
S
L
Q
P
D
I
D
L
L
P
F
G
D
Q
T
E
I
G
E
R
G
I
N
L
S
G
G
Q
R
Q
R
I
C
V
A
R
A
L
Y
Q
N
T
N
I
V
F
L
D
D
P
F
S
A
L
D
I
H
L
S
D
848
ABCC10 683
N
I
L
F
G
K
T
F
D
A
Q
L
Y
K
E
V
L
E
A
C
A
L
N
D
D
L
S
I
L
P
A
G
D
Q
T
E
V
G
E
K
G
V
T
L
S
G
G
Q
R
A
R
I
A
L
A
R
A
V
Y
Q
E
K
E
L
Y
L
L
D
D
P
L
A
A
V
D
A
D
V
A
N
762
ABCC11 591
N
I
L
M
G
G
A
Y
D
K
A
R
Y
L
Q
V
L
H
C
C
S
L
N
R
D
L
E
L
L
P
F
G
D
M
T
E
I
G
E
R
G
L
N
L
S
G
G
Q
K
Q
R
I
S
L
A
R
A
V
Y
S
D
R
Q
I
Y
L
L
D
D
P
L
S
A
V
D
A
H
V
G
K
670
ABCC12 560
N
I
L
F
G
E
K
Y
D
H
Q
R
Y
Q
H
T
V
R
V
C
G
L
Q
K
D
L
S
N
L
P
Y
G
D
L
T
E
I
G
E
R
G
L
N
L
S
G
G
Q
R
Q
R
I
S
L
A
R
A
V
Y
S
D
R
Q
L
Y
L
L
D
D
P
L
S
A
V
D
A
H
V
G
K
639