Mutations at homologous positions to ABCC6 p.Ser587
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.Ser587Cys
|
N
N
N
|
| ABCC7 |
p.Ala357Thr
|
D
N
?
|
Mutations +/- 5 a.a. around the position:
| ABCC1 |
p.Asn597Ala
p.Pro600Ala
p.Ser604Ala
p.Ser604Thr
p.Ser605Ala
|
D
D
?
D
D
?
D
N
?
D
N
?
D
N
?
|
| ABCC4 |
p.Phe368Leu
p.Phe368Trp
p.Phe368Tyr
p.Phe368Ala
p.Glu374Ser
p.Arg375Ser
p.Arg375Glu
p.Arg375Ala
p.Arg375Lys
|
N
D
?
D
D
?
N
N
?
N
D
?
N
N
?
N
N
?
D
N
?
D
N
?
N
N
?
|
| ABCC7 |
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
p.Pro355Ser
p.Pro355Leu
p.Pro355Ala
p.Pro355Phe
p.Trp356Cys
p.Trp356*
p.Val358Ile
p.Gln359Lys
p.Gln359Arg
p.Thr360Lys
p.Trp361Arg
p.Tyr362*
|
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
?
D
D
?
D
D
?
D
D
?
D
D
?
N
N
?
-
-
N
N
?
N
N
?
D
N
D
N
?
D
D
-
-
|
| ABCC8 |
p.Phe591Leu
p.Arg598*
p.Arg598*
p.Val601Ile
|
N
D
?
-
-
?
-
-
?
N
N
?
|
| ABCC9 |
p.Phe594Tyr
|
N
N
?
|
The alignment around the queried position:
ABCC6 550
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
S
G
S
A
A
G
-
-
626
ABCC1 564
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
V
K
D
G
G
G
-
-
641
ABCC2 561
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
N
F
D
K
-
-
-
-
636
ABCC3 550
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
I
S
P
G
-
-
-
-
625
ABCC4 335
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
D
G
K
K
-
-
-
-
409
ABCC5 417
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
P
H
I
K
I
E
M
K
493
ABCC7 321
-
-
-
D
G
A
I
I
D
Q
K
K
T
E
Y
N
L
-
-
-
-
-
-
-
-
-
389
ABCC8 558
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
P
-
T
P
Q
G
P
A
635
ABCC9 554
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
S
S
L
P
F
E
S
C
631
ABCC10 521
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
D
P
P
A
E
P
-
-
595
ABCC11 401
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
P
S
K
L
V
F
E
477
ABCC12 361
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
P
D
T
V
L
L
L
A
437