Mutations at homologous positions to ABCA4 p.Arg2149
Alignment: ABCA_full, Alignment of full length ABCA proteins, 2016-02-18 11:17:15Mutations exactly at the same position:
|
SNAP2 PROVEAN Effect_dbs |
||
|---|---|---|
| ABCA4 |
p.Arg2149*
p.Arg2149Leu
p.Arg2149*
|
-
-
D
D
D
-
-
D
|
Mutations +/- 5 a.a. around the position:
| ABCA4 |
p.Gly2146Asp
p.Cys2150Trp
p.Cys2150Arg
p.Cys2150Tyr
|
D
D
D
D
?
D
D
D
D
|
| ABCA3 |
p.Val1588Met
p.Gln1589*
p.Gln1591Pro
p.Leu1595Pro
|
N
D
?
-
-
?
D
D
D
D
D
?
|
The alignment around the queried position:
ABCA4 2111
N
V
V
S
I
I
-
G
R
A
V
V
L
T
S
C
E
A
L
T
A
M
V
K
A
F
M
G
T
I
Q
H
L
K
S
F
G
D
G
Y
V
T
M
K
I
S
P
D
L
L
D
L
N
P
V
E
Q
F
2189
ABCA1 2085
N
C
A
L
S
V
K
E
-
G
R
S
V
V
L
T
S
H
S
M
E
E
C
E
L
C
T
R
M
A
I
M
V
N
G
R
F
R
C
L
G
S
V
Q
H
L
K
N
R
F
G
D
G
Y
T
I
V
V
I
A
G
-
-
-
-
S
N
D
L
K
P
V
Q
D
F
F
2159
ABCA2 2226
N
L
I
L
D
L
I
K
T
-
G
R
S
V
V
L
T
S
H
S
M
E
E
C
E
A
L
C
T
R
L
A
I
M
V
N
G
R
L
R
C
L
G
S
I
Q
H
L
K
N
R
F
G
D
G
Y
M
I
T
V
R
T
K
S
-
-
-
-
-
S
Q
S
V
K
D
V
V
R
F
F
2299
ABCA3 1555
D
T
V
A
R
A
E
S
-
G
K
A
I
I
I
T
S
H
S
M
E
E
C
A
C
T
L
A
I
M
G
F
K
C
G
S
P
Q
H
L
K
S
K
F
G
S
Y
S
L
A
K
V
Q
S
-
-
E
G
Q
Q
E
A
L
E
E
F
K
A
F
V
1631
ABCA5 1474
A
I
R
T
A
F
K
N
R
K
R
A
A
I
L
T
T
H
Y
M
E
E
A
E
A
V
C
D
R
V
A
I
M
V
S
G
Q
L
R
C
I
G
T
V
Q
H
L
K
S
K
F
G
K
G
Y
F
L
E
I
K
L
K
D
-
-
W
I
E
N
L
E
V
D
R
L
Q
R
E
I
Q
1551
ABCA6 1454
A
I
Q
A
V
V
K
N
T
E
R
G
V
L
L
T
T
H
N
L
A
E
A
E
A
L
C
D
R
V
A
I
M
V
S
G
R
L
R
C
I
G
S
I
Q
H
L
K
N
K
L
G
K
D
Y
I
L
E
L
K
V
K
E
-
-
T
S
Q
-
-
-
V
T
L
V
H
T
E
I
L
1528
ABCA7 1966
N
S
L
L
A
V
V
R
E
-
G
R
S
V
M
L
T
S
H
S
M
E
E
C
E
A
L
C
S
R
L
A
I
V
N
G
R
F
R
C
L
G
S
P
Q
H
L
G
R
F
A
A
G
H
T
L
T
L
R
V
P
A
-
-
-
-
A
R
S
-
-
Q
P
A
A
A
F
V
2038
ABCA8 1419
A
I
R
A
T
F
R
N
T
E
R
G
A
L
L
T
T
H
Y
M
A
E
A
E
A
V
C
D
R
V
A
I
M
V
S
G
R
L
R
C
I
G
S
I
Q
H
L
K
S
K
F
G
K
D
Y
L
L
E
M
K
V
K
N
-
-
L
A
Q
-
-
-
V
E
P
L
H
A
E
I
L
1493
ABCA9 1462
V
I
R
A
T
F
R
N
T
E
R
G
A
L
L
T
T
H
Y
M
A
E
A
E
A
V
C
D
R
V
A
I
M
V
S
G
R
L
R
C
I
G
S
I
Q
H
L
K
S
K
F
G
K
D
Y
L
L
E
M
K
L
K
N
-
-
L
A
Q
-
-
-
M
E
P
L
H
A
E
I
L
1536
ABCA10 1381
I
L
Q
A
T
V
K
N
K
E
R
G
T
L
L
T
T
H
Y
M
S
E
A
E
A
V
C
D
R
M
A
M
M
V
S
G
T
L
R
C
I
G
S
I
Q
H
L
K
N
K
F
G
R
D
Y
L
L
E
I
K
M
K
E
-
-
P
T
Q
-
-
-
V
E
A
L
H
T
E
I
L
1455
ABCA12 2430
K
I
I
S
E
E
V
Q
N
-
K
C
S
V
I
L
T
S
H
S
M
E
E
C
E
A
L
C
T
R
A
I
M
V
N
G
K
F
Q
C
I
G
S
L
Q
H
I
K
S
F
G
R
G
F
T
V
K
V
H
L
K
N
-
-
-
-
N
K
V
T
M
E
T
L
T
K
F
M
2504
ABCA13 4897
Q
T
I
M
K
E
V
R
E
-
G
C
A
A
V
L
T
S
H
S
M
E
E
C
E
A
L
C
T
R
L
A
I
M
V
N
G
S
F
K
C
L
G
S
P
Q
H
I
K
N
R
F
G
D
G
Y
T
V
K
V
W
L
C
K
-
-
-
-
E
A
N
Q
H
C
T
V
S
D
H
L
4971