Mutations at homologous positions to ABCC7 p.Ala349
Alignment: ABCC_full, Alignment of full length ABCC proteins, 2016-02-18 11:19:27Mutations exactly at the same position:
|
SNAP2 PROVEAN Effect_dbs |
||
|---|---|---|
| ABCC7 |
p.Ala349Val
p.Ala349Cys
p.Ala349Ser
p.Ala349Lys
|
N
N
D
D
N
?
N
N
?
D
N
?
|
| ABCC1 |
p.Pro595Ala
|
D
D
?
|
| ABCC4 |
p.Thr364Arg
|
D
D
?
|
Mutations +/- 5 a.a. around the position:
| ABCC7 |
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.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.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
p.Gln353Cys
p.Gln353His
p.Gln353Ala
p.Gln353*
p.Phe354Ile
p.Phe354Arg
|
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
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
?
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
D
N
?
D
N
D
N
?
-
-
N
N
?
D
D
?
|
| ABCC1 |
p.Asn590Ala
p.Asn590Gln
p.Asn590Asp
p.Arg593Leu
p.Arg593Glu
p.Arg593Lys
p.Phe594Ala
p.Phe594Trp
p.Phe594Tyr
p.Asn597Ala
p.Pro600Ala
|
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
D
N
?
D
D
?
D
D
?
N
N
?
D
D
?
D
D
?
|
| ABCC2 |
p.Arg590Ala
|
D
D
?
|
| ABCC4 |
p.Phe368Leu
p.Phe368Trp
p.Phe368Tyr
p.Phe368Ala
|
N
D
?
D
D
?
N
N
?
N
D
?
|
| ABCC8 |
p.Val587Gly
p.Phe591Leu
|
N
D
?
N
D
?
|
The alignment around the queried position:
ABCC7 313
S
-
-
-
D
G
A
I
I
D
Q
K
K
T
E
Y
N
L
-
389
ABCC1 556
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
634
ABCC2 553
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
D
C
631
ABCC3 542
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
K
T
620
ABCC4 327
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
S
404
ABCC5 409
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
A
S
485
ABCC6 542
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
S
S
619
ABCC8 550
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
H
E
628
ABCC9 546
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
G
E
623
ABCC10 513
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
-
P
588
ABCC11 393
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
Q
D
469
ABCC12 353
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
E
D
429