Mutations at homologous positions to ABCC7 p.Ser549
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.Ser549Arg
p.Ser549Asn
p.Ser549Ile
p.Ser549Cys
p.Ser549Lys
|
N
D
D
N
D
D
D
D
D
D
D
D
D
D
D
|
| ABCC1 |
p.Gly771Asp
p.Gly771Ala
|
D
D
?
D
D
?
|
| ABCC4 |
p.Gly538Asp
p.Gly538Ala
|
D
D
?
D
D
?
|
Mutations +/- 5 a.a. around the position:
| ABCC7 |
p.Gly544Ser
p.Gly544Val
p.Thr547Cys
p.Leu548Gln
p.Leu548Cys
p.Gly550Glu
p.Gly550His
p.Gly550Asp
p.Gly550Arg
p.Gly550*
p.Gly551Asp
p.Gly551Ser
p.Gly551Ala
p.Gly551Cys
p.Gly551Arg
p.Gly551*
p.Gly551Glu
p.Gly551Lys
p.Gln552*
p.Gln552His
p.Gln552Ala
p.Gln552Cys
p.Arg553*
p.Arg553Gln
p.Arg553Gly
p.Arg553Met
p.Arg553Lys
p.Arg553Cys
p.Arg553Asp
p.Ala554Glu
|
D
N
?
D
D
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
D
D
-
-
D
D
D
N
D
D
D
D
D
D
D
D
D
D
D
-
-
D
D
D
D
D
D
D
-
-
D
D
D
D
D
D
D
D
D
D
-
-
D
D
N
D
D
D
D
D
D
D
N
D
D
D
D
D
D
D
N
N
?
|
| ABCC1 |
p.Leu768Arg
|
D
D
?
|
| ABCC2 |
p.Arg768Trp
p.Arg768Tyr
|
D
D
D
D
D
D
|
| ABCC6 |
p.Met751Lys
p.Gly755Arg
p.Arg760Trp
p.Arg760Gln
|
D
D
D
D
D
D
D
D
D
D
D
D
|
| ABCC8 |
p.Ser830Arg
p.Arg834Trp
p.Arg836*
p.Arg836*
|
D
D
?
D
D
?
-
-
D
-
-
D
|
The alignment around the queried position:
985ABCC7 510
D
E
K
A
E
N
V
G
I
S
L
V
589
ABCC1 732
L
E
E
P
Y
Y
R
S
V
I
Q
A
A
L
L
P
D
L
E
I
L
P
S
D
R
T
E
I
G
E
K
G
V
N
S
G
Q
K
Q
R
V
S
L
A
R
A
Y
S
N
A
D
I
Y
L
F
L
S
A
V
D
A
H
V
G
K
H
I
F
E
N
V
I
811
ABCC2 725
F
N
E
K
R
Y
Q
Q
V
L
E
A
C
A
L
P
D
L
E
M
L
P
G
G
D
L
A
E
I
G
E
G
I
N
L
S
G
G
Q
K
Q
I
S
L
A
R
A
T
Y
Q
N
L
D
I
Y
L
L
D
P
L
A
V
A
H
V
G
K
H
I
F
K
V
L
804
ABCC3 715
L
N
P
R
Y
Q
Q
T
L
E
A
C
A
L
L
A
D
L
E
M
L
P
G
G
D
Q
E
I
G
E
K
G
I
N
L
S
G
G
Q
R
Q
R
V
S
L
A
R
A
Y
S
D
A
I
F
L
L
D
D
P
L
S
A
V
D
S
H
V
A
K
H
I
F
D
H
V
I
794
ABCC4 499
Y
E
K
E
R
Y
E
K
V
I
K
A
C
A
L
K
K
D
L
Q
L
L
E
D
G
D
L
T
V
I
G
D
G
T
T
L
S
G
Q
K
A
R
V
N
L
A
R
V
Y
Q
D
A
D
I
L
D
D
P
L
S
A
V
D
A
E
V
S
R
H
L
F
L
C
I
578
ABCC5 649
Y
D
E
E
R
Y
N
S
V
L
N
S
C
C
L
R
P
D
L
A
I
L
P
S
S
D
L
T
E
I
G
E
R
G
A
N
L
S
G
G
Q
R
Q
R
I
S
L
A
R
A
L
Y
S
D
R
S
I
Y
I
L
D
D
P
L
S
A
L
D
A
H
V
G
N
H
I
F
N
S
A
I
728
ABCC6 717
L
P
P
W
L
E
V
E
A
C
A
L
Q
P
D
V
D
S
F
P
E
G
H
T
S
I
G
E
G
N
L
S
G
Q
K
Q
L
S
L
A
V
K
A
A
V
Y
L
L
D
P
L
A
L
D
A
H
G
Q
H
V
F
Q
V
I
796
ABCC8 793
F
N
K
Q
R
Y
K
M
V
I
E
A
S
L
P
D
I
D
I
H
G
Q
T
Q
I
G
E
G
I
N
L
G
G
Q
Q
I
S
V
A
A
L
Y
Q
H
A
N
V
V
F
L
P
F
S
A
L
I
H
L
S
D
H
L
M
Q
A
G
I
872
ABCC9 776
F
N
K
Q
R
Y
K
A
V
T
D
A
C
S
L
Q
P
D
I
D
L
L
P
F
G
D
Q
T
E
I
G
E
R
G
I
N
L
S
G
G
Q
R
Q
R
I
C
V
A
R
A
L
Y
Q
N
T
N
I
V
F
L
D
D
P
F
S
A
L
D
I
H
L
S
D
H
L
M
Q
E
G
I
855
ABCC10 690
F
D
A
Q
L
Y
K
E
V
L
E
A
C
A
L
N
D
D
L
S
I
L
P
A
G
D
Q
T
E
V
G
E
K
G
V
T
L
S
G
G
Q
R
A
R
I
A
L
A
R
A
V
Y
Q
E
K
E
L
Y
L
L
D
D
P
L
A
A
V
D
A
D
V
A
N
H
L
L
H
R
C
I
769
ABCC11 598
Y
D
K
A
R
Y
L
Q
V
L
H
C
C
S
L
N
R
D
L
E
L
L
P
F
G
D
M
T
E
I
G
E
R
G
L
N
L
S
G
G
Q
K
Q
R
I
S
L
A
R
A
V
Y
S
D
R
Q
I
Y
L
L
D
D
P
L
S
A
V
D
A
H
V
G
K
H
I
F
E
E
C
I
677
ABCC12 567
Y
D
H
Q
R
Y
Q
H
T
V
R
V
C
G
L
Q
K
D
L
S
N
L
P
Y
G
D
L
T
E
I
G
E
R
G
L
N
L
S
G
G
Q
R
Q
R
I
S
L
A
R
A
V
Y
S
D
R
Q
L
Y
L
L
D
D
P
L
S
A
V
D
A
H
V
G
K
H
V
F
E
E
C
I
646