Mutations at homologous positions to ABCC8 p.Gly505
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.Gly505Arg
|
D
D
?
|
| ABCC1 |
p.Gly511Pro
p.Gly511Ile
|
D
D
?
D
D
?
|
| ABCC6 |
p.Asn497Lys
|
N
D
D
|
| ABCC7 |
p.Asn268Cys
|
D
D
?
|
Mutations +/- 5 a.a. around the position:
| ABCC8 |
p.Glu501Lys
p.Leu503Pro
p.Arg504Cys
|
D
D
?
D
D
?
N
D
?
|
| ABCC1 |
p.Asn506Ser
p.Glu507Leu
p.Glu507Ala
p.Lys513Ala
p.Lys513Arg
p.Lys516Arg
p.Lys516Ala
|
N
D
?
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
|
| ABCC12 |
p.Thr307Cys
|
N
D
?
|
| ABCC6 |
p.Leu495His
p.Thr500Pro
p.Lys502Met
|
D
D
D
D
D
D
D
D
D
|
| ABCC7 |
p.Ser263His
p.Glu264Val
p.Met265Val
p.Met265Arg
p.Glu267Lys
p.Glu267Ala
p.Glu267Arg
p.Glu267Cys
p.Glu267Gly
|
D
D
?
D
D
?
N
N
?
D
D
D
N
?
N
N
?
D
N
?
D
D
?
D
N
?
|
The alignment around the queried position:
ABCC8 466
V
I
I
L
L
A
P
V
Y
F
V
T
K
L
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
545
ABCC1 472
V
M
V
L
M
V
N
A
K
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
551
ABCC2 469
V
M
L
V
I
P
I
N
A
I
S
T
S
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
548
ABCC3 458
F
M
V
L
L
I
P
L
N
G
A
V
A
V
K
M
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
537
ABCC4 243
V
L
I
I
L
L
P
L
Q
S
C
F
G
K
L
F
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
322
ABCC5 325
V
F
I
L
F
Y
P
A
M
M
A
R
T
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
404
ABCC6 458
V
F
L
S
L
P
L
F
F
I
S
K
K
R
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
537
ABCC7 229
L
L
M
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
308
ABCC9 462
V
I
V
L
L
A
P
I
Q
Y
F
I
A
T
K
L
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
541
ABCC10 429
L
A
L
L
L
V
P
V
N
K
V
I
A
T
R
I
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
508
ABCC11 309
C
Y
L
L
V
F
P
L
A
V
F
M
T
R
M
A
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
388
ABCC12 269
V
Y
V
I
F
I
P
V
Q
M
F
M
A
K
L
N
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
348