Mutations at homologous positions to ABCC6 p.Leu1226
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.Leu1226Ile
|
D
N
D
|
| ABCC7 |
p.Val1153Glu
p.Val1153Ala
|
D
D
N
D
?
|
Mutations +/- 5 a.a. around the position:
| ABCC6 |
p.Arg1221Cys
p.Arg1221His
p.Trp1223*
|
D
D
D
D
D
D
-
-
D
|
| ABCC1 |
p.Arg1249Ala
p.Arg1249Met
p.Arg1249Asp
p.Arg1249Lys
|
D
D
?
D
D
?
D
D
?
D
D
?
|
| ABCC11 |
p.Arg1096Lys
|
D
D
?
|
| ABCC2 |
p.Arg1257Ala
|
D
D
?
|
| ABCC4 |
p.Arg998Ala
p.Arg998Lys
p.Arg998Glu
p.Arg998Leu
p.Arg998Ser
p.Arg998Tyr
|
D
D
?
D
N
?
D
D
?
D
D
?
D
D
?
D
D
?
|
| ABCC7 |
p.Asn1148Lys
p.Asn1148Cys
p.Asn1148Ser
p.Asn1148Ala
p.Ser1149Ala
p.Ser1149Cys
p.Ser1150Ala
p.Ile1151Ala
p.Asp1152His
p.Asp1152Ala
p.Asp1154Gly
p.Leu1156Phe
p.Arg1158*
|
D
N
D
D
?
D
N
D
N
?
N
N
?
D
N
?
D
N
?
N
N
?
D
D
D
D
D
D
D
D
D
N
?
-
-
D
|
| ABCC8 |
p.Glu1305Ala
p.Glu1305Val
p.Glu1305Ile
p.Glu1305Gly
|
D
D
?
D
D
?
D
D
?
D
D
?
|
The alignment around the queried position:
ABCC6 1189
C
A
V
L
S
K
A
H
-
-
L
S
A
G
L
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
-
1249
ABCC1 1217
F
A
V
I
S
H
S
-
-
L
S
G
L
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
-
1277
ABCC2 1225
M
M
V
I
Y
D
T
-
-
L
S
G
D
T
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
-
1285
ABCC3 1213
F
A
V
I
G
R
S
-
-
L
N
P
G
L
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
-
1273
ABCC4 966
G
S
L
I
L
A
K
T
-
-
L
D
A
G
Q
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
1026
ABCC5 1116
M
I
V
L
M
H
G
Q
-
-
I
P
P
A
Y
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
1176
ABCC7 1117
-
-
-
G
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
1193
ABCC8 1265
T
S
I
S
N
S
L
H
R
E
L
S
A
G
L
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
1327
ABCC9 1237
A
S
I
S
G
S
S
N
-
-
-
-
S
G
L
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
1295
ABCC10 1169
I
A
L
V
Q
H
Q
Q
G
L
A
N
P
G
L
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
-
1231
ABCC11 1064
F
V
A
F
G
I
S
S
-
-
T
P
Y
S
F
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
1124
ABCC12 1043
L
V
T
L
S
F
S
S
-
-
I
S
T
S
S
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
1103