Mutations at homologous positions to ABCC8 p.Phe591
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.Phe591Leu
|
N
D
?
|
| ABCC1 |
p.Asn597Ala
|
D
D
?
|
| ABCC7 |
p.Thr351Ala
p.Thr351Cys
p.Thr351Ser
p.Thr351Arg
|
D
N
?
D
N
?
D
N
D
N
?
|
Mutations +/- 5 a.a. around the position:
| ABCC8 |
p.Val587Gly
|
N
D
?
|
| ABCC1 |
p.Arg593Leu
p.Arg593Glu
p.Arg593Lys
p.Phe594Ala
p.Phe594Trp
p.Phe594Tyr
p.Pro595Ala
p.Pro600Ala
|
D
D
?
D
D
?
D
N
?
D
D
?
D
D
?
N
N
?
D
D
?
D
D
?
|
| ABCC2 |
p.Arg590Ala
|
D
D
?
|
| ABCC4 |
p.Thr364Arg
p.Phe368Leu
p.Phe368Trp
p.Phe368Tyr
p.Phe368Ala
|
D
D
?
N
D
?
D
D
?
N
N
?
N
D
?
|
| ABCC6 |
p.Ser587Cys
|
N
N
N
|
| ABCC7 |
p.Leu346Pro
p.Leu346Cys
p.Leu346Ala
p.Leu346Glu
p.Leu346Arg
p.Arg347Pro
p.Arg347Cys
p.Arg347His
p.Arg347Glu
p.Arg347Asp
p.Arg347Lys
p.Arg347Leu
p.Arg347Trp
p.Arg347Ile
p.Arg347Ala
p.Arg347Gln
p.Met348Lys
p.Met348Cys
p.Met348Val
p.Met348Thr
p.Met348Ala
p.Met348Arg
p.Met348Asn
p.Met348Ile
p.Met348Glu
p.Ala349Val
p.Ala349Cys
p.Ala349Ser
p.Ala349Lys
p.Val350Cys
p.Val350Ala
p.Val350Arg
p.Arg352Gln
p.Arg352His
p.Arg352Cys
p.Arg352Glu
p.Arg352Trp
p.Arg352Lys
p.Arg352Ala
p.Arg352Gly
p.Gln353Cys
p.Gln353His
p.Gln353Ala
p.Gln353*
p.Phe354Ile
p.Phe354Arg
p.Pro355Ser
p.Pro355Leu
p.Pro355Ala
p.Pro355Phe
p.Trp356Cys
p.Trp356*
|
D
D
D
D
?
D
D
?
D
D
?
D
D
?
D
N
D
D
D
D
N
D
D
N
?
D
D
?
D
N
?
D
N
D
D
D
?
D
D
?
D
N
?
D
N
?
D
D
D
D
?
N
N
?
D
D
?
D
D
?
D
D
?
D
D
?
N
N
?
D
D
?
N
N
D
D
N
?
N
N
?
D
N
?
D
N
?
D
N
?
D
D
?
D
N
D
D
N
D
D
N
D
D
N
D
D
N
D
D
N
D
D
N
D
D
N
D
D
N
?
D
N
D
N
?
-
-
N
N
?
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
N
N
?
-
-
|
The alignment around the queried position:
ABCC8 552
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
V
S
Q
K
L
S
E
F
L
S
S
A
E
I
E
E
Q
C
A
P
H
E
P
-
630
ABCC1 558
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
V
S
L
K
R
L
R
I
F
L
S
H
E
E
L
E
P
D
S
I
R
P
V
K
636
ABCC2 555
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
V
S
T
E
R
L
E
K
Y
L
G
G
D
D
L
D
T
S
A
I
R
H
D
C
N
F
633
ABCC3 544
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
V
S
L
K
R
I
Q
Q
F
L
Q
E
E
L
D
P
Q
S
V
E
R
K
T
I
S
622
ABCC4 329
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
V
S
I
R
R
I
Q
T
F
L
L
L
D
E
I
S
Q
R
N
R
Q
L
S
D
G
406
ABCC5 411
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
V
A
V
D
R
F
K
S
L
F
L
M
E
E
V
H
M
I
K
N
K
P
A
S
P
H
487
ABCC6 544
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
V
S
F
D
L
V
T
F
L
C
L
E
E
V
D
P
G
V
D
S
S
S
S
G
621
ABCC7 315
-
-
-
D
G
A
I
I
D
Q
K
K
T
E
Y
N
L
-
-
-
389
ABCC9 548
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
I
S
V
Q
K
L
N
E
F
L
L
S
D
E
I
G
D
D
S
W
R
T
G
E
S
S
625
ABCC10 515
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
V
S
L
D
R
I
Q
L
F
L
D
L
P
N
H
N
P
Q
A
Y
Y
S
-
P
D
P
590
ABCC11 395
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
S
A
V
M
R
F
K
K
F
F
L
Q
E
S
P
V
F
Y
V
Q
T
L
Q
D
P
S
471
ABCC12 355
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
V
S
L
R
R
M
K
K
I
L
I
D
K
S
P
P
S
Y
I
T
Q
P
E
D
P
D
431