Mutations at homologous positions to ABCC8 p.Val587
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.Val587Gly
|
N
D
?
|
| ABCC1 |
p.Arg593Leu
p.Arg593Glu
p.Arg593Lys
|
D
D
?
D
D
?
D
N
?
|
| ABCC2 |
p.Arg590Ala
|
D
D
?
|
| ABCC7 |
p.Arg347Pro
p.Arg347Cys
p.Arg347His
p.Arg347Glu
p.Arg347Asp
p.Arg347Lys
p.Arg347Leu
p.Arg347Trp
p.Arg347Ile
p.Arg347Ala
p.Arg347Gln
|
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
?
|
Mutations +/- 5 a.a. around the position:
| ABCC8 |
p.Leu582Val
p.Phe591Leu
|
N
N
?
N
D
?
|
| ABCC1 |
p.Asn590Ala
p.Asn590Gln
p.Asn590Asp
p.Phe594Ala
p.Phe594Trp
p.Phe594Tyr
p.Pro595Ala
p.Asn597Ala
|
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
N
N
?
D
D
?
D
D
?
|
| ABCC4 |
p.Thr364Arg
|
D
D
?
|
| ABCC7 |
p.Phe342Trp
p.Phe342Cys
p.Phe342Ala
p.Cys343Ser
p.Cys343Val
p.Cys343Leu
p.Cys343Thr
p.Cys343Ala
p.Ile344Ala
p.Ile344Cys
p.Ile344Lys
p.Ile344His
p.Ile344Arg
p.Val345Cys
p.Val345Ala
p.Val345Lys
p.Val345His
p.Val345Arg
p.Leu346Pro
p.Leu346Cys
p.Leu346Ala
p.Leu346Glu
p.Leu346Arg
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.Thr351Ala
p.Thr351Cys
p.Thr351Ser
p.Thr351Arg
p.Arg352Gln
p.Arg352His
p.Arg352Cys
p.Arg352Glu
p.Arg352Trp
p.Arg352Lys
p.Arg352Ala
p.Arg352Gly
|
D
N
?
D
D
?
D
D
?
N
N
?
D
N
?
D
N
?
N
N
?
N
N
?
N
N
?
N
N
?
N
N
?
D
N
?
N
N
?
D
D
?
N
N
?
D
D
?
D
D
?
D
D
?
D
D
D
D
?
D
D
?
D
D
?
D
D
?
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
N
?
D
N
D
N
?
D
N
D
D
N
D
D
N
D
D
N
D
D
N
D
D
N
D
D
N
D
D
N
D
|
The alignment around the queried position:
ABCC8 548
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
V
S
Q
K
L
S
E
F
L
S
S
A
E
I
E
E
Q
C
A
P
626
ABCC1 554
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
V
S
L
K
R
L
R
I
F
L
S
H
E
E
L
E
P
D
S
I
R
632
ABCC2 551
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
V
S
T
E
R
L
E
K
Y
L
G
G
D
D
L
D
T
S
A
I
R
H
629
ABCC3 540
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
V
S
L
K
R
I
Q
Q
F
L
Q
E
E
L
D
P
Q
S
V
E
R
618
ABCC4 325
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
V
S
I
R
R
I
Q
T
F
L
L
L
D
E
I
S
Q
R
N
R
Q
L
402
ABCC5 407
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
V
A
V
D
R
F
K
S
L
F
L
M
E
E
V
H
M
I
K
N
K
P
483
ABCC6 540
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
V
S
F
D
L
V
T
F
L
C
L
E
E
V
D
P
G
V
D
S
617
ABCC7 311
S
-
-
-
D
G
A
I
I
D
Q
K
K
T
E
Y
N
L
387
ABCC9 544
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
I
S
V
Q
K
L
N
E
F
L
L
S
D
E
I
G
D
D
S
W
R
T
621
ABCC10 511
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
V
S
L
D
R
I
Q
L
F
L
D
L
P
N
H
N
P
Q
A
Y
Y
S
587
ABCC11 391
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
S
A
V
M
R
F
K
K
F
F
L
Q
E
S
P
V
F
Y
V
Q
T
L
467
ABCC12 351
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
V
S
L
R
R
M
K
K
I
L
I
D
K
S
P
P
S
Y
I
T
Q
P
427