Mutations at homologous positions to ABCC6 p.Arg600
Alignment: ABCC_full, Alignment of full length ABCC proteins, 2016-02-18 11:19:27Mutations exactly at the same position:
SNAP2 PROVEAN Effect_dbs |
||
---|---|---|
ABCC6 |
p.Arg600Gly
p.Arg600Cys
p.Arg600His
|
D
D
D
D
D
D
D
D
D
|
ABCC7 |
p.Lys370*
p.Lys370Cys
|
-
-
?
D
D
?
|
Mutations +/- 5 a.a. around the position:
ABCC2 |
p.Ser607Asn
|
N
N
?
|
ABCC7 |
p.Leu365Pro
p.Asn369*
p.Gln372*
p.Phe374Ala
p.Leu375Phe
p.Leu375Ala
|
D
N
-
-
?
-
-
?
D
D
?
N
D
D
D
?
|
ABCC8 |
p.Val607Met
|
N
N
?
|
The alignment around the queried position:
ABCC6 562
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
S
G
S
A
A
G
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
626
ABCC1 577
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
V
K
D
G
G
G
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
641
ABCC2 574
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
N
F
D
K
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
636
ABCC3 563
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
I
S
P
G
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
625
ABCC4 346
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
D
G
K
K
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
409
ABCC5 428
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
P
H
I
K
I
E
M
K
N
A
T
L
A
W
D
S
S
H
S
S
I
506
ABCC7 332
-
D
G
A
I
I
D
Q
K
K
T
E
Y
N
L
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
389
ABCC8 571
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
P
-
T
P
Q
G
P
A
S
K
Y
Q
V
P
L
R
V
V
N
R
648
ABCC9 566
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
S
S
L
P
F
E
S
C
K
K
H
T
G
V
Q
P
K
T
I
N
R
644
ABCC10 532
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
D
P
P
A
E
P
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
595
ABCC11 412
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
P
S
K
L
V
F
E
E
A
T
L
S
W
Q
Q
T
C
P
G
-
490
ABCC12 372
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
P
D
T
V
L
L
L
A
N
A
T
L
T
W
E
H
E
A
S
R
K
450