Mutations at homologous positions to ABCC6 p.Gly1042
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.Gly1042Ser
|
D
D
?
|
| ABCC7 |
p.Gly970Asp
p.Gly970Arg
p.Gly970Glu
p.Gly970Ala
p.Gly970Met
p.Gly970Lys
|
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
|
Mutations +/- 5 a.a. around the position:
| ABCC1 |
p.Arg1066*
p.Arg1066Trp
p.Pro1068Ala
|
-
-
?
D
D
?
D
D
?
|
| ABCC4 |
p.Arg815Ala
p.Arg820Ile
|
N
N
?
D
D
?
|
| ABCC7 |
p.Thr966Cys
p.Leu967Ser
p.Leu973Pro
p.Leu973Phe
p.Arg975Ala
p.Arg975Ser
p.Arg975Gln
p.Arg975Cys
|
N
D
?
D
N
?
D
D
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
|
| ABCC8 |
p.Asn1122Asp
|
D
D
?
|
The alignment around the queried position:
ABCC6 1003
F
A
S
M
A
A
V
L
G
G
A
R
A
S
R
L
L
F
Q
R
L
W
D
V
V
S
P
I
S
F
F
E
R
T
P
I
H
L
L
N
R
F
K
E
T
D
T
V
V
D
I
P
D
K
S
L
L
M
Y
A
F
G
L
L
E
V
S
L
V
V
A
V
1082
ABCC1 1031
F
G
Y
M
A
V
S
I
G
G
I
L
A
S
L
V
D
L
L
H
S
I
L
S
M
S
F
F
E
T
S
G
N
L
V
N
R
F
S
K
E
L
D
V
M
I
V
I
M
F
M
G
L
F
V
I
G
A
I
V
I
L
L
1110
ABCC2 1039
F
I
A
F
W
S
A
F
G
F
V
H
A
S
N
I
L
H
Q
L
L
N
I
L
A
M
R
F
F
D
T
T
P
T
G
R
I
V
N
R
F
A
G
D
I
S
T
V
D
D
T
L
P
Q
S
L
S
W
I
T
C
F
G
I
I
S
T
L
V
M
I
C
M
1118
ABCC3 1027
M
L
A
A
M
A
M
A
A
G
G
I
Q
A
A
R
V
L
H
Q
A
L
L
H
N
K
I
R
S
P
Q
S
F
F
D
T
T
P
S
G
R
I
L
N
C
F
S
K
D
I
Y
V
V
D
E
V
L
A
P
V
I
L
M
L
L
N
S
F
F
N
A
I
S
T
L
V
V
I
M
A
1106
ABCC4 780
I
A
R
S
L
L
V
F
Y
V
L
V
N
S
Q
L
N
K
F
E
S
I
L
K
A
P
V
L
F
F
D
N
P
I
G
I
L
N
R
F
S
K
D
I
G
H
L
D
D
L
L
P
L
T
F
L
D
F
I
Q
T
L
L
Q
V
V
G
V
S
V
A
V
A
859
ABCC5 930
A
I
R
G
V
V
F
V
K
G
T
L
R
A
S
S
R
L
H
D
E
L
F
R
R
I
L
R
S
P
M
K
F
F
D
T
T
P
T
G
R
I
L
N
R
F
S
K
D
M
D
E
V
D
V
R
L
P
F
Q
A
E
M
F
I
Q
N
V
I
L
V
F
F
C
V
G
M
I
A
G
1009
ABCC7 931
F
G
L
L
T
L
I
T
V
I
L
L
P
T
L
N
K
A
G
I
N
F
A
I
L
D
L
L
P
L
T
F
I
Q
L
L
I
V
I
G
A
V
V
1010
ABCC8 1079
L
V
T
S
V
T
V
E
W
T
G
L
K
V
A
K
R
L
H
R
S
L
L
N
R
I
I
L
A
P
M
R
F
F
E
T
T
P
L
G
S
I
L
R
F
S
S
D
N
I
D
Q
H
I
P
S
T
L
E
L
S
R
S
T
C
V
S
A
L
A
V
I
S
Y
1158
ABCC9 1051
L
V
T
L
T
V
E
W
M
G
L
T
A
A
K
N
L
H
H
N
L
L
N
I
I
L
G
P
I
R
F
F
D
T
T
P
L
G
L
I
L
N
R
F
S
A
D
T
N
I
I
D
Q
H
I
P
P
T
L
E
S
L
T
S
T
L
L
C
L
S
A
I
G
I
S
Y
1130
ABCC10 983
L
L
R
A
V
L
F
A
A
G
T
L
Q
A
A
A
L
H
R
R
L
L
H
R
V
L
M
A
P
V
T
F
F
N
A
T
P
T
G
R
I
L
N
R
F
S
S
D
V
A
C
A
D
D
S
L
P
F
I
L
N
I
L
L
A
N
A
G
L
L
G
L
L
A
V
L
G
S
1062
ABCC11 878
V
C
S
S
G
I
F
T
K
V
T
R
K
A
S
T
A
L
H
N
K
L
F
N
K
V
F
R
C
P
M
S
F
F
D
T
I
P
I
G
R
L
L
N
C
F
A
G
D
L
E
Q
L
D
Q
L
L
P
I
F
S
E
Q
F
L
V
L
S
L
M
V
I
A
V
L
L
I
V
S
V
957
ABCC12 867
V
T
K
G
F
V
F
T
K
T
T
L
M
A
S
S
S
L
H
D
T
V
F
D
K
I
L
K
S
P
M
S
F
F
D
T
T
P
T
G
R
L
M
N
R
F
S
K
D
M
D
E
L
D
V
R
L
P
F
H
A
E
N
F
L
Q
Q
F
F
M
V
V
F
I
L
V
I
L
A
A
946