Mutations at homologous positions to ABCC6 p.Trp1241
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.Trp1241Cys
p.Trp1241*
|
D
N
D
-
-
D
|
| ABCC7 |
p.Asp1168Gly
|
N
D
|
Mutations +/- 5 a.a. around the position:
| ABCC6 |
p.Gln1237*
p.Asp1238His
p.Tyr1239His
p.Glu1245Asp
|
-
-
D
D
D
D
D
D
D
N
D
D
|
| ABCC1 |
p.Tyr1267Ala
p.Tyr1267Trp
p.Tyr1267Leu
p.Tyr1267Phe
p.Tyr1267Lys
|
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
|
| ABCC2 |
p.Thr1273Ala
p.Tyr1275*
|
N
N
?
-
-
?
|
| ABCC7 |
p.Lys1165Thr
p.Lys1165Cys
p.Gly1173Ser
|
N
N
?
D
D
?
N
N
?
|
| ABCC8 |
p.Gly1316Gln
p.Glu1323Lys
|
N
N
?
D
D
?
|
The alignment around the queried position:
ABCC6 1202
V
F
S
V
S
A
A
L
Q
V
T
Q
T
L
Q
W
V
V
N
T
D
E
N
S
I
V
S
V
M
A
T
P
K
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
A
P
W
-
R
L
P
T
C
A
A
Q
P
P
P
Q
G
1263
ABCC1 1230
V
G
L
V
L
V
L
L
V
M
S
S
E
M
E
T
N
I
V
A
V
E
R
L
K
E
S
E
T
E
K
E
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
A
P
W
-
Q
I
Q
E
T
A
P
P
S
S
W
P
Q
G
1291
ABCC2 1238
V
G
F
V
L
S
A
L
N
I
T
Q
T
L
N
L
V
M
T
S
E
I
E
T
N
I
V
A
V
E
R
I
E
T
K
V
E
N
E
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
A
P
W
-
V
D
-
K
R
P
P
D
W
P
S
K
G
1298
ABCC3 1226
V
G
L
V
L
V
F
A
L
M
I
R
M
M
S
D
L
E
S
N
I
V
A
V
E
R
V
K
E
Y
S
K
T
E
T
E
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
A
P
W
-
V
V
E
G
S
R
P
P
E
G
W
P
P
G
1287
ABCC4 979
V
G
L
A
L
S
Y
A
L
T
L
M
G
M
F
Q
C
V
Q
S
A
E
V
E
N
M
M
I
S
V
E
R
V
I
E
Y
T
D
L
E
K
E
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
A
P
W
E
Y
Q
K
-
-
R
P
P
P
A
W
P
H
E
G
1039
ABCC5 1129
A
G
L
A
I
S
Y
A
V
Q
L
T
G
L
F
Q
F
T
V
R
L
A
S
E
T
E
A
R
F
T
S
V
E
R
I
N
H
Y
I
K
T
L
S
L
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
E
A
P
A
R
I
K
N
K
A
P
S
P
D
W
P
Q
E
G
1191
ABCC7 1129
S
M
V
V
F
F
I
M
P
T
E
K
P
T
S
T
P
K
N
G
Q
L
S
K
V
I
I
N
H
K
D
D
P
G
1208
ABCC8 1280
V
G
L
G
L
Y
A
L
S
N
Y
L
N
W
M
V
R
N
L
A
D
M
L
Q
L
G
A
V
K
R
I
H
L
L
K
T
E
A
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
S
Y
G
L
L
A
P
S
L
I
P
K
N
W
P
D
Q
1342
ABCC9 1248
V
L
G
L
L
Y
A
L
T
I
T
N
Y
L
N
W
V
V
R
N
L
A
D
L
E
V
Q
M
G
A
V
K
K
V
N
S
F
L
T
M
E
S
E
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
N
Y
E
G
T
M
D
P
S
Q
V
P
E
H
W
P
Q
E
G
1310
ABCC10 1184
V
G
L
S
L
S
A
L
S
L
T
G
L
L
S
G
L
V
S
S
F
T
Q
T
E
A
M
L
V
S
V
E
R
L
E
E
Y
T
C
D
L
P
Q
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
E
P
Q
-
G
Q
P
L
Q
L
G
T
G
-
W
L
T
Q
G
1244
ABCC11 1077
K
V
M
A
V
N
I
V
L
L
A
S
S
F
Q
A
T
A
I
G
L
E
T
E
A
Q
F
T
A
V
E
R
I
L
Q
Y
M
K
M
C
V
S
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
E
A
P
L
H
M
E
G
T
S
C
P
Q
G
W
P
Q
H
G
1139
ABCC12 1056
K
L
S
L
S
Y
I
I
Q
L
S
G
L
L
Q
V
C
V
R
T
G
T
E
T
Q
A
K
F
T
S
V
E
L
L
R
E
Y
I
S
T
C
V
P
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
E
C
T
H
P
L
K
V
G
T
C
P
K
D
W
P
S
R
G
1118