Mutations at homologous positions to ABCA4 p.Leu1894
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.Leu1894Ile
|
N
N
?
|
Mutations +/- 5 a.a. around the position:
ABCA4 |
p.Val1896Asp
p.Arg1898His
|
D
D
D
N
|
ABCA1 |
p.Leu1869*
|
-
-
?
|
ABCA3 |
p.Glu1325Lys
|
D
D
?
|
The alignment around the queried position:
ABCA4 1858
A
F
G
E
-
E
H
S
A
P
F
H
W
D
L
-
-
I
G
K
N
L
F
V
V
V
Y
F
L
L
T
L
Q
H
F
L
S
Q
W
-
-
-
-
-
-
-
-
-
-
-
-
I
A
E
P
T
K
E
P
I
V
D
E
D
D
D
A
1922
ABCA1 1832
L
E
R
F
G
E
-
N
R
V
S
P
L
S
W
D
L
-
-
V
G
N
L
F
A
M
A
E
G
V
V
F
F
L
I
T
V
I
Q
Y
R
F
F
I
R
P
R
-
-
-
-
-
-
-
-
-
-
-
-
P
V
N
A
K
L
S
P
L
D
E
D
E
D
V
R
1896
ABCA2 1970
Y
A
K
I
G
Q
F
D
K
M
K
S
P
F
E
W
D
I
-
-
V
T
R
G
L
V
A
M
A
V
E
G
V
V
G
F
L
L
T
I
M
C
Q
Y
N
F
L
R
R
P
Q
-
-
-
-
-
-
-
-
-
-
-
-
R
M
P
V
S
T
K
P
V
E
D
-
D
V
D
V
A
2034
ABCA3 1283
Y
C
K
K
Y
N
I
Q
Y
Q
E
N
F
Y
W
S
A
V
G
R
F
V
A
S
M
A
A
S
G
C
A
Y
L
I
L
L
F
L
I
T
N
L
L
Q
R
L
G
I
L
C
A
L
R
R
R
R
T
L
T
E
L
Y
T
R
M
P
V
L
P
E
D
Q
D
V
1362
ABCA5 1204
W
D
R
L
S
V
A
V
I
S
P
Y
L
Q
C
V
L
W
I
F
L
L
Q
Y
Y
E
K
K
Y
G
G
R
S
I
R
K
D
P
F
F
R
N
L
S
T
K
S
K
N
R
-
-
-
-
-
-
-
-
-
-
-
-
-
K
L
P
E
P
P
D
N
E
D
E
D
E
D
V
K
A
1270
ABCA6 1193
S
A
T
D
F
L
V
C
F
I
P
Y
F
Q
T
L
L
F
V
F
V
L
R
C
M
E
L
K
C
G
K
K
R
M
R
K
D
P
V
F
R
-
I
S
P
Q
S
R
D
-
-
-
-
-
-
-
-
-
-
-
-
-
-
A
K
P
N
P
E
E
P
I
D
E
D
E
D
I
Q
T
1257
ABCA7 1713
F
E
L
G
D
-
R
Q
F
Q
S
P
L
R
W
E
V
-
-
V
G
K
N
L
L
A
M
V
I
Q
G
P
L
F
L
L
F
T
L
L
L
Q
H
R
S
Q
L
L
P
Q
-
-
-
-
-
-
-
-
-
-
-
-
P
R
V
R
S
L
P
L
L
G
E
E
D
E
D
V
A
1777
ABCA8 1156
D
V
Q
P
F
L
V
F
L
I
P
F
L
H
F
I
I
F
L
F
T
L
R
C
L
E
W
K
F
G
K
K
S
M
R
K
D
P
F
F
R
-
I
S
P
R
S
S
D
-
-
-
-
-
-
-
-
-
-
-
-
-
-
V
C
Q
N
P
E
E
P
E
G
E
D
E
D
V
Q
M
1220
ABCA9 1199
S
E
I
V
Y
L
A
L
L
I
P
Y
L
H
F
L
I
F
L
F
I
L
R
C
L
E
M
N
C
R
K
K
L
M
R
K
D
P
V
F
R
-
I
S
P
R
S
N
A
-
-
-
-
-
-
-
-
-
-
-
-
-
-
I
F
P
N
P
E
E
P
E
G
E
E
E
D
I
Q
M
1263
ABCA10 1112
N
K
T
I
L
L
T
T
L
I
P
Y
L
Q
S
V
I
F
L
F
V
I
R
C
L
E
M
K
Y
G
N
E
I
M
N
K
D
P
V
F
R
-
I
S
P
R
S
R
E
-
-
-
-
-
-
-
-
-
-
-
-
-
-
T
H
P
N
P
E
E
P
E
E
D
E
D
V
Q
A
1176
ABCA12 2168
F
L
K
A
Y
G
V
E
Y
P
N
E
T
F
E
M
N
K
-
-
L
G
A
M
F
V
A
L
V
S
Q
G
T
M
F
F
S
L
R
L
L
I
N
E
S
L
I
K
K
L
R
-
-
-
-
-
-
-
L
F
F
R
K
F
N
S
S
H
V
R
E
T
I
D
E
D
E
D
V
R
2238
ABCA13 4636
L
T
H
N
F
G
I
D
S
Y
V
S
F
E
M
N
F
-
-
L
G
W
I
F
V
Q
L
A
S
Q
G
T
V
L
L
L
L
R
V
L
L
H
W
D
L
L
R
-
-
-
-
-
-
-
-
-
-
-
W
P
R
G
H
S
T
L
Q
G
T
V
K
S
S
K
D
T
D
V
E
4702