Mutations at homologous positions to ABCC8 p.Arg521
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.Arg521Gln
p.Arg521Pro
|
N
N
D
N
?
|
| ABCC3 |
p.Gln513Lys
|
N
N
?
|
| ABCC7 |
p.Met284Thr
|
N
N
?
|
Mutations +/- 5 a.a. around the position:
| ABCC8 |
p.Arg526Cys
|
D
D
?
|
| ABCC1 |
p.Arg532Ala
|
D
D
?
|
| ABCC3 |
p.Arg518*
p.Arg518Gln
|
-
-
?
D
D
?
|
| ABCC4 |
p.Lys293Glu
|
N
D
?
|
| ABCC6 |
p.Val514Ile
p.Arg518Gln
p.Arg518*
|
D
N
D
D
D
D
-
-
D
|
| ABCC7 |
p.Glu279*
p.Glu279Asp
p.Met281Thr
p.Met281Arg
p.Ile285Phe
p.Asn287Tyr
p.Asn287Lys
|
-
-
?
N
N
?
D
D
D
D
?
N
D
D
N
N
N
N
|
The alignment around the queried position:
ABCC8 482
S
Q
A
S
T
L
Y
S
N
E
L
K
Q
T
N
M
I
K
L
L
K
A
W
E
N
I
F
R
T
V
E
T
T
R
K
E
M
T
R
A
A
I
Y
T
S
I
S
I
F
M
N
T
A
I
I
A
V
L
I
T
F
561
ABCC1 488
Q
V
M
K
D
I
L
M
I
L
N
I
V
L
L
Y
A
W
L
A
F
K
D
K
V
L
A
I
Q
E
L
K
V
L
K
S
A
Y
L
S
A
V
G
F
V
F
L
V
A
L
A
V
567
ABCC2 485
K
I
Q
V
K
N
M
K
N
D
K
R
L
K
I
M
N
E
I
L
S
G
I
K
I
L
K
Y
F
W
E
P
S
F
R
D
Q
V
Q
N
L
R
K
K
E
L
K
N
L
L
A
F
S
Q
L
Q
C
V
V
I
F
V
F
Q
L
T
P
V
L
V
S
V
V
T
S
V
564
ABCC3 474
R
A
F
Q
V
K
Q
M
K
L
K
D
S
R
I
K
L
M
S
E
I
L
N
G
I
K
V
L
K
L
Y
A
W
E
P
S
F
L
K
V
E
G
I
Q
G
E
L
Q
L
L
R
A
Y
L
H
T
T
T
T
F
T
W
M
C
S
P
F
L
V
T
I
L
W
V
553
ABCC4 259
S
S
L
S
K
T
A
T
F
T
D
A
R
I
R
T
M
N
E
V
I
T
G
I
R
I
I
K
M
Y
A
W
E
S
F
S
N
L
I
T
N
L
R
K
E
I
S
K
I
L
R
S
S
C
L
R
G
M
N
L
A
S
F
F
S
A
S
K
I
I
V
F
V
T
F
T
T
338
ABCC5 341
A
Y
R
R
K
C
V
A
A
T
D
E
R
V
Q
K
M
N
E
V
L
T
Y
I
K
F
I
K
M
Y
A
W
V
K
A
F
S
Q
S
V
Q
K
I
R
E
E
E
R
R
I
L
E
K
A
G
Y
F
Q
S
I
T
V
G
V
A
P
I
V
V
V
I
A
S
V
V
T
F
S
V
420
ABCC6 474
N
H
Q
E
E
Q
M
R
Q
K
D
S
A
R
L
T
S
S
I
R
S
K
I
F
H
G
W
G
A
F
L
D
R
L
G
I
G
Q
L
G
A
L
R
T
S
G
L
L
F
S
V
L
V
S
F
Q
V
S
T
F
L
V
A
L
V
V
F
A
V
553
ABCC7 245
M
Y
A
G
I
S
L
V
I
T
I
I
Q
S
V
K
E
A
E
K
E
L
R
T
L
T
A
N
S
S
324
ABCC9 478
E
A
Q
K
S
T
L
D
Y
S
T
E
R
L
K
K
T
N
E
I
L
K
G
I
K
L
L
K
L
Y
A
W
E
H
I
F
C
K
S
V
E
E
T
R
M
K
E
L
S
L
K
T
F
A
L
Y
T
S
L
S
I
F
M
N
A
A
I
P
I
A
A
V
L
A
T
F
V
T
557
ABCC10 445
M
A
S
N
Q
E
M
L
Q
H
K
D
A
R
K
L
V
T
E
L
L
S
G
I
R
V
I
K
F
C
G
W
E
Q
A
L
G
A
R
V
E
A
C
R
A
R
E
L
G
R
L
R
V
I
K
Y
L
D
A
A
C
V
Y
L
W
A
A
L
P
V
V
I
S
I
V
I
F
I
T
524
ABCC11 325
V
K
A
Q
H
H
T
S
E
V
S
D
Q
R
I
R
V
T
S
E
V
L
T
C
I
K
L
I
K
M
Y
T
W
E
K
P
F
A
K
I
I
E
D
L
R
R
K
E
R
K
L
L
E
K
C
G
L
V
Q
S
L
T
S
I
T
L
F
I
I
P
T
V
A
T
A
V
W
V
L
I
404
ABCC12 285
S
A
F
R
R
S
A
I
L
V
T
D
K
R
V
Q
T
M
N
E
F
L
C
I
R
L
I
K
M
Y
A
W
E
K
S
F
T
N
T
I
Q
D
I
R
R
R
E
R
K
L
L
E
K
A
G
F
V
Q
S
G
N
S
A
L
A
P
I
V
S
T
I
A
I
V
L
T
L
S
C
364