Mutations at homologous positions to ABCC7 p.Asp249
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.Asp249Tyr
|
D
N
?
|
| ABCC8 |
p.Arg486Ala
|
D
D
?
|
Mutations +/- 5 a.a. around the position:
| ABCC7 |
p.Met244Lys
p.Lys246Asn
p.Arg248Glu
p.Arg248Thr
p.Arg248Cys
p.Gln250Arg
p.Arg251Glu
p.Arg251Cys
p.Lys254Cys
|
D
D
N
N
?
D
N
?
D
D
D
D
?
N
N
?
D
N
?
D
D
?
N
N
?
|
| ABCC1 |
p.Thr487Met
p.Lys488Arg
p.Thr489Ala
p.Tyr490Phe
p.Ala493Lys
p.His494Gln
p.Ser497Leu
|
N
N
?
N
N
?
N
N
?
N
N
?
N
N
?
N
N
?
N
N
?
|
| ABCC2 |
p.Thr486Ile
|
D
D
?
|
| ABCC4 |
p.Arg262Lys
|
D
D
?
|
| ABCC5 |
p.Phe343Cys
p.Phe343Arg
|
N
D
?
D
D
?
|
| ABCC6 |
p.His475Leu
|
N
N
?
|
| ABCC8 |
p.Gln485Arg
p.Gln485His
p.Glu490*
|
D
D
?
D
D
?
-
-
?
|
| ABCC9 |
p.Ala478Val
|
N
D
D
|
The alignment around the queried position:
ABCC7 210
I
L
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
289
ABCC1 453
L
L
Y
L
L
L
N
L
G
S
V
L
A
G
V
A
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
532
ABCC2 450
L
S
I
F
F
L
W
R
E
L
P
S
V
L
A
G
V
G
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
529
ABCC3 439
L
A
I
Y
F
L
W
Q
N
L
G
S
V
L
A
G
V
A
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
518
ABCC4 224
A
V
T
A
L
L
W
M
E
I
G
I
S
C
L
A
G
M
A
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
303
ABCC5 306
L
G
M
I
Y
N
V
I
I
L
G
P
T
G
F
L
G
S
A
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
385
ABCC6 439
V
F
V
Y
L
W
Q
L
L
G
P
S
A
L
T
I
A
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
518
ABCC8 447
V
G
V
I
L
Y
I
L
G
A
L
G
A
A
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
526
ABCC9 443
M
G
V
I
L
L
Y
N
L
L
G
S
S
A
L
V
G
A
A
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
522
ABCC10 410
I
T
L
Y
L
L
Y
Q
Q
V
G
V
A
F
V
G
G
L
I
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
489
ABCC11 290
I
C
S
I
S
S
Y
F
I
I
G
Y
T
A
F
I
A
I
L
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
369
ABCC12 250
F
C
A
A
Y
A
F
F
I
L
G
P
T
A
L
I
G
I
S
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
329