Mutations at homologous positions to ABCC7 p.Leu558
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.Leu558Ser
|
D
D
D
|
ABCC6 |
p.Arg765Gln
p.Arg765Trp
|
D
D
D
D
D
D
|
ABCC8 |
p.Arg841*
p.Arg841Gly
|
-
-
?
D
D
?
|
Mutations +/- 5 a.a. around the position:
ABCC7 |
p.Arg553*
p.Arg553Gln
p.Arg553Gly
p.Arg553Met
p.Arg553Lys
p.Arg553Cys
p.Arg553Asp
p.Ala554Glu
p.Arg555Lys
p.Arg555Gln
p.Arg555Thr
p.Arg555Gly
p.Arg555Ala
p.Ile556Val
p.Ala559Thr
p.Ala559Glu
p.Arg560Thr
p.Arg560Ser
p.Arg560Lys
p.Arg560Cys
p.Arg560Gly
p.Ala561Glu
p.Val562Leu
p.Val562Ile
p.Val562Ala
p.Tyr563Asn
p.Tyr563Asp
p.Tyr563Cys
p.Tyr563*
p.Tyr563Val
p.Tyr563His
|
-
-
D
D
N
D
D
D
D
D
D
D
N
D
D
D
D
D
D
D
N
N
?
D
D
?
D
D
?
D
D
?
D
D
D
D
?
N
N
N
D
D
D
D
D
D
D
D
D
N
D
D
D
D
?
D
D
N
D
D
N
N
N
N
D
D
?
D
D
D
D
D
D
D
D
-
-
D
D
D
D
D
D
D
|
ABCC1 |
p.Val782Ile
|
N
N
?
|
ABCC2 |
p.Arg768Trp
p.Arg768Tyr
|
D
D
D
D
D
D
|
ABCC3 |
p.Val765Leu
|
N
N
?
|
ABCC4 |
p.Ala548Gly
|
N
D
?
|
ABCC6 |
p.Arg760Trp
p.Arg760Gln
p.Ala766Asp
p.Tyr768*
p.Arg769Lys
|
D
D
D
D
D
D
D
D
D
-
-
D
N
N
?
|
ABCC8 |
p.Arg836*
p.Arg836*
|
-
-
D
-
-
D
|
The alignment around the queried position:
994ABCC7 519
K
A
E
N
V
G
I
S
L
V
V
L
A
N
598
ABCC1 741
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
G
P
K
G
M
L
K
N
K
820
ABCC2 734
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
G
P
N
L
L
K
G
K
813
ABCC3 724
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
G
P
E
G
L
A
G
K
803
ABCC4 508
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
C
Q
I
-
-
L
H
E
K
585
ABCC5 658
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
R
K
H
-
-
L
K
S
K
735
ABCC6 726
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
G
P
G
G
L
L
Q
G
T
805
ABCC8 802
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
L
E
L
L
R
D
D
R
881
ABCC9 785
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
L
K
F
L
Q
D
D
K
R
864
ABCC10 699
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
L
G
M
L
S
Y
T
T
R
778
ABCC11 607
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
K
K
T
-
-
L
R
G
K
684
ABCC12 576
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
K
K
T
-
-
L
R
G
K
653