Mutations at homologous positions to ABCC6 p.Leu1025
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.Leu1025Pro
|
D
D
D
|
| ABCC7 |
p.Leu953Asn
|
D
D
?
|
Mutations +/- 5 a.a. around the position:
| ABCC6 |
p.Arg1030*
|
-
-
D
|
| ABCC1 |
p.His1049Ala
p.Arg1058Gln
|
D
D
?
D
D
?
|
| ABCC2 |
p.Lys1058Asn
p.Asn1063Ser
p.Arg1066*
p.Arg1066*
|
N
N
?
N
D
?
-
-
D
-
-
D
|
| ABCC4 |
p.His798Tyr
p.Met801Val
|
D
D
?
N
D
?
|
| ABCC7 |
p.His949Tyr
p.His949Arg
p.His949Leu
p.His949Cys
p.His950Arg
p.His950Ala
p.His950Cys
p.His950Asp
p.His950Gln
p.Lys951Cys
p.Lys951Ala
p.Lys951Arg
p.Lys951Gln
p.Lys951Glu
p.Met952Thr
p.Met952Ile
p.His954Ala
p.His954Cys
p.Ser955Cys
p.Ser955Ala
p.Val956Cys
p.Gln958Cys
p.Gln958Ala
p.Gln958Asp
p.Gln958Arg
|
D
D
D
D
D
D
D
D
D
D
N
N
?
N
N
?
N
D
?
N
N
?
N
N
?
N
D
?
D
N
?
N
N
?
N
N
?
D
N
?
D
D
N
N
N
N
?
N
D
?
N
D
?
N
N
?
N
D
?
N
D
?
N
N
?
D
N
?
N
N
?
|
| ABCC9 |
p.Lys1075Met
|
N
D
?
|
The alignment around the queried position:
ABCC6 986
L
R
G
G
I
F
L
L
G
C
L
Q
A
I
G
L
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
1065
ABCC1 1014
V
R
L
S
V
Y
G
L
G
I
S
Q
G
I
A
V
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
1093
ABCC2 1022
M
G
V
Y
G
A
L
G
L
A
Q
G
F
V
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
1101
ABCC3 1010
L
R
L
G
V
Y
A
A
L
G
I
L
Q
G
F
L
V
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
1089
ABCC4 763
W
Y
L
G
I
Y
S
G
L
T
V
A
T
L
F
G
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
842
ABCC5 913
Y
Y
A
S
I
Y
A
L
S
M
A
V
M
L
I
L
K
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
992
ABCC7 914
V
F
V
T
A
M
G
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
993
ABCC8 1062
V
Y
A
M
V
F
T
V
L
C
S
L
G
I
V
L
C
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
1141
ABCC9 1034
Y
Y
V
A
G
S
I
L
G
A
G
I
F
L
C
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
1113
ABCC10 966
F
Y
L
T
V
Y
A
T
I
A
G
V
N
S
L
C
T
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
1045
ABCC11 861
F
Y
Q
L
V
Y
G
L
N
A
L
L
L
I
C
V
G
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
940
ABCC12 850
V
Y
Q
W
V
Y
T
A
S
M
V
F
M
L
V
F
G
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
929