Mutations at homologous positions to ABCC8 p.Phe565
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.Phe565Ser
|
N
D
?
|
| ABCC7 |
p.Ile328Cys
|
N
N
?
|
Mutations +/- 5 a.a. around the position:
| ABCC8 |
p.Val560Gly
p.Val560Met
p.Gly561Ser
p.Lys567Cys
p.Glu568Lys
|
N
N
?
D
N
N
N
N
?
D
N
?
D
N
?
|
| ABCC1 |
p.Tyr568Ala
p.Tyr568Ser
p.Tyr568Trp
p.Tyr568Phe
p.Thr570Ala
p.Asp572Arg
p.Asp572Asn
p.Glu573Arg
|
D
D
?
D
D
?
D
D
?
N
D
?
N
N
?
D
D
?
D
D
?
N
D
?
|
| ABCC6 |
p.Met562Thr
|
D
D
D
|
| ABCC7 |
p.Leu323Pro
p.Pro324Ala
p.Pro324Gly
p.Tyr325Cys
p.Ala326Cys
p.Leu327Arg
p.Leu327Cys
p.Lys329Ala
p.Lys329Cys
p.Lys329Glu
p.Gly330*
p.Gly330Cys
p.Ile331Cys
p.Ile332Cys
p.Ile332Lys
p.Leu333Ala
p.Leu333Cys
|
D
N
?
N
N
?
N
D
?
D
D
?
N
N
?
D
D
?
N
D
?
N
N
?
D
N
?
D
N
?
-
-
D
D
D
D
D
D
?
N
N
?
N
N
?
N
N
D
N
N
D
|
The alignment around the queried position:
ABCC8 526
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
H
V
S
F
A
D
F
S
P
V
A
F
A
S
S
F
H
I
L
T
P
L
L
L
S
-
S
V
V
S
T
K
A
L
604
ABCC1 532
Q
E
L
K
V
L
K
S
A
Y
L
S
A
V
G
F
V
F
L
V
A
L
A
V
V
I
N
N
I
L
A
A
F
V
L
L
F
I
L
L
I
L
-
M
V
I
I
V
Q
A
S
610
ABCC2 529
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
Y
V
L
V
D
S
N
N
I
L
D
A
Q
A
F
T
S
I
T
L
F
N
I
L
F
P
L
S
M
L
P
-
M
M
I
S
S
M
L
Q
A
607
ABCC3 518
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
Y
V
Y
V
D
P
N
N
V
L
D
A
E
K
A
F
V
S
V
S
L
F
N
I
L
R
L
P
L
N
M
L
P
-
Q
L
I
S
N
L
T
Q
A
S
596
ABCC4 303
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
Y
V
L
L
G
S
V
-
-
I
T
A
S
R
V
F
V
A
V
L
Y
G
A
V
R
L
V
T
L
F
P
S
A
I
V
S
A
I
380
ABCC5 385
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
H
M
T
L
G
F
D
-
-
L
T
A
A
Q
A
F
T
V
V
T
V
F
N
S
M
T
F
A
L
K
V
T
P
-
F
S
V
K
S
L
S
E
A
S
461
ABCC6 518
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
H
T
L
V
A
E
N
-
A
N
A
E
K
A
V
T
L
T
V
L
N
I
L
N
K
A
Q
A
F
L
P
-
F
I
H
S
L
V
Q
A
R
595
ABCC7 289
R
T
L
T
A
N
S
S
-
-
-
D
365
ABCC9 522
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
H
A
-
Y
A
S
G
N
N
L
K
P
A
E
A
F
A
S
L
S
L
F
H
I
L
V
T
P
L
F
L
L
S
-
T
V
V
R
A
V
K
A
I
599
ABCC10 489
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
Y
V
L
M
G
H
Q
-
-
L
T
A
T
K
V
F
T
A
L
A
L
V
R
M
L
I
L
P
L
N
N
F
P
-
W
V
I
N
G
L
L
E
A
K
565
ABCC11 369
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
H
T
S
L
K
L
K
-
-
L
T
A
S
M
A
F
S
M
L
A
S
L
N
L
L
R
L
S
V
F
F
V
P
-
I
A
V
K
G
L
T
N
S
K
445
ABCC12 329
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
H
I
L
L
R
R
K
-
-
L
T
A
P
V
A
F
S
V
I
A
M
F
N
V
M
K
F
S
I
A
I
L
P
-
F
S
I
K
A
M
A
E
A
N
405