Mutations at homologous positions to ABCC6 p.Thr1130
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.Thr1130Met
p.Thr1130Asn
|
D
D
D
D
D
D
|
Mutations +/- 5 a.a. around the position:
| ABCC6 |
p.Met1127Thr
p.Gly1133Ala
p.Gly1133Cys
|
D
N
D
D
D
D
D
D
D
|
| ABCC1 |
p.Asn1156Gln
p.Glu1157Leu
p.Gly1161Pro
p.Gly1161Leu
|
N
D
?
D
D
?
D
D
?
D
D
?
|
| ABCC7 |
p.Thr1053Ile
p.His1054Asp
p.Val1056Asn
p.Val1056His
p.Thr1057Cys
p.Leu1059*
p.Lys1060Thr
p.Lys1060Ala
p.Lys1060Glu
p.Lys1060Cys
p.Gly1061Arg
p.Gly1061Cys
p.Trp1063*
|
D
N
D
D
D
N
?
D
N
?
D
N
?
-
-
N
N
N
N
?
D
N
?
N
D
?
D
D
D
D
?
-
-
|
| ABCC8 |
p.Ser1201Cys
p.Ala1204Ser
p.Leu1210Arg
|
N
N
?
N
N
?
D
D
?
|
The alignment around the queried position:
ABCC6 1091
I
L
P
L
F
L
L
Y
A
G
F
Q
S
L
Y
V
V
S
S
C
Q
L
R
L
E
S
A
S
Y
S
V
C
S
H
A
E
F
Q
S
T
V
V
F
T
A
P
F
V
A
Q
N
N
A
R
V
D
E
S
Q
R
I
S
F
P
L
V
A
D
R
W
1170
ABCC1 1119
I
L
G
L
I
Y
F
F
V
Q
F
Y
V
A
S
Q
L
L
S
S
R
S
V
Y
S
H
F
T
L
L
V
S
I
A
F
E
E
Q
E
F
I
H
Q
S
L
V
N
Q
K
A
S
I
V
A
N
1198
ABCC2 1127
V
I
P
L
G
I
I
Y
V
S
V
Q
M
F
Y
V
S
T
S
R
Q
L
R
L
D
S
V
T
R
S
I
Y
S
H
F
S
E
T
V
S
G
L
P
V
A
F
E
H
Q
Q
F
L
K
H
N
E
R
I
D
T
N
Q
K
C
V
F
S
W
I
T
S
N
R
W
1206
ABCC3 1115
I
L
P
L
A
V
L
Y
T
L
V
Q
R
F
Y
A
A
T
S
R
Q
L
K
L
E
S
V
S
R
S
P
I
Y
S
H
F
S
E
T
V
T
G
A
S
V
I
R
A
Y
N
R
S
R
D
F
E
I
S
D
T
K
V
D
A
N
Q
R
S
C
Y
P
Y
I
I
S
N
R
W
1194
ABCC4 868
L
V
P
L
G
I
I
F
I
F
L
R
R
Y
F
L
E
T
S
R
D
V
K
R
L
E
S
T
T
R
S
P
F
S
H
L
S
S
S
L
Q
G
L
W
T
I
R
A
Y
K
A
E
E
R
C
Q
E
L
F
D
A
H
Q
D
L
H
S
E
A
W
F
L
F
L
T
T
S
R
W
947
ABCC5 1018
V
G
P
L
V
I
L
F
S
V
L
H
I
V
S
R
V
L
I
R
E
L
K
R
L
D
N
I
T
Q
S
P
F
L
S
H
I
T
S
S
I
Q
G
L
A
T
I
H
A
Y
N
K
G
Q
E
F
L
H
R
Y
Q
E
L
L
D
D
N
Q
A
P
F
F
L
F
T
C
A
M
W
1097
ABCC7 1019
T
V
V
F
L
A
F
L
Q
S
Q
Q
L
L
E
S
P
I
L
S
L
E
T
F
H
L
N
L
F
L
S
T
R
1098
ABCC8 1167
L
L
P
L
A
I
V
Y
F
I
K
Y
F
V
R
D
L
Q
L
D
T
T
L
L
L
H
F
E
T
V
E
G
T
T
I
R
A
F
E
A
R
F
Q
K
L
E
T
D
S
N
N
I
A
L
F
L
T
A
A
N
R
W
1246
ABCC9 1139
L
L
P
L
G
V
A
F
Y
F
I
Q
K
Y
F
V
A
S
K
D
L
Q
E
L
D
D
S
T
Q
L
P
L
L
C
H
F
S
E
T
A
E
G
L
T
T
I
R
A
F
R
H
E
T
R
F
K
Q
L
E
L
T
D
T
N
N
I
A
Y
L
F
L
S
A
A
N
R
W
1218
ABCC10 1071
L
P
P
L
S
I
M
Y
Y
H
V
Q
R
H
Y
R
A
S
S
R
E
L
R
R
L
G
S
L
T
L
S
P
L
Y
S
H
L
A
D
T
L
A
G
L
S
V
L
R
A
T
G
A
T
Y
R
F
E
E
E
N
L
R
L
L
E
L
N
Q
R
C
Q
F
A
T
S
A
T
M
Q
W
1150
ABCC11 966
G
A
I
I
M
V
I
C
F
I
Y
Y
M
M
F
K
K
A
I
G
V
F
K
R
L
E
Y
S
R
S
P
L
F
S
H
I
L
N
S
L
Q
G
L
S
S
I
H
V
Y
G
K
T
E
D
F
I
S
Q
F
K
R
L
T
D
A
Q
N
N
Y
L
L
L
F
L
S
S
T
R
W
1045
ABCC12 955
V
A
S
L
A
V
G
F
F
I
L
L
R
I
F
H
R
G
V
Q
E
L
K
K
V
E
N
V
S
R
S
P
W
F
T
H
I
T
S
S
M
Q
G
L
G
I
I
H
A
Y
G
K
K
E
S
C
I
T
-
-
-
-
-
-
-
-
-
-
Y
H
L
L
Y
F
N
C
A
L
R
W
1024