Mutations at homologous positions to ABCC6 p.Arg1221
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.Arg1221Cys
p.Arg1221His
|
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
|
D
N
D
D
?
D
N
D
N
?
|
Mutations +/- 5 a.a. around the position:
| ABCC6 |
p.Trp1223*
p.Leu1226Ile
|
-
-
D
D
N
D
|
| ABCC1 |
p.Asn1245Ala
p.Trp1246Cys
p.Trp1246Ala
p.Trp1246Phe
p.Trp1246Tyr
|
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
|
| ABCC2 |
p.Trp1254Tyr
p.Trp1254Ala
p.Trp1254Phe
p.Trp1254Cys
|
D
D
?
D
D
?
D
D
?
D
D
?
|
| ABCC3 |
p.Asn1241Ala
p.Trp1242Phe
p.Trp1242Cys
p.Trp1242Ala
p.Trp1242Pro
p.Trp1242Tyr
|
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
|
| ABCC4 |
p.Trp995Phe
p.Trp995Ala
p.Trp995Tyr
|
D
D
?
D
D
?
D
D
?
|
| ABCC7 |
p.Leu1143Cys
p.Leu1143Ala
p.Gln1144Cys
p.Gln1144Ala
p.Trp1145Cys
p.Trp1145Ala
p.Trp1145*
p.Trp1145Arg
p.Ala1146Cys
p.Ala1146Ser
p.Val1147Ile
p.Val1147Cys
p.Val1147Ala
p.Ser1149Ala
p.Ser1149Cys
p.Ser1150Ala
p.Ile1151Ala
p.Asp1152His
p.Asp1152Ala
p.Val1153Glu
p.Val1153Ala
|
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
-
-
D
D
?
N
N
?
N
N
?
D
N
D
D
?
D
D
?
N
N
?
D
N
?
D
N
?
N
N
?
D
D
D
D
D
D
D
D
N
D
?
|
The alignment around the queried position:
ABCC6 1184
F
A
A
A
T
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1246
ABCC1 1212
L
A
A
L
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1274
ABCC2 1220
F
F
S
A
L
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1282
ABCC3 1208
L
F
A
A
L
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1270
ABCC4 961
I
I
V
A
F
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1023
ABCC5 1111
T
T
T
G
L
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1173
ABCC7 1112
-
-
-
G
S
M
V
V
F
F
I
M
P
T
E
K
P
T
S
T
P
K
N
G
Q
L
S
1188
ABCC8 1260
I
A
V
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1324
ABCC9 1232
L
T
A
S
I
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1292
ABCC10 1164
S
A
I
A
G
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1228
ABCC11 1059
L
A
V
A
L
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1121
ABCC12 1038
F
T
V
A
L
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
1100