Mutations at homologous positions to ABCA4 p.Leu1940
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.Leu1940Pro
|
D
D
D
|
Mutations +/- 5 a.a. around the position:
ABCA4 |
p.Glu1942Gln
|
N
N
?
|
ABCA3 |
p.Ile1382Met
|
N
N
?
|
The alignment around the queried position:
ABCA4 1906
I
A
E
P
T
K
E
P
I
V
D
E
D
D
D
A
E
E
Q
R
I
I
T
G
G
N
K
-
-
-
-
-
T
D
I
L
R
H
L
T
K
I
Y
G
T
-
-
-
-
-
-
-
-
-
S
S
P
A
V
D
R
L
C
V
R
P
G
E
C
F
G
1971
ABCA1 1880
P
V
N
A
K
L
S
P
L
D
E
D
E
D
V
R
E
R
Q
I
L
D
G
G
G
Q
-
-
-
-
-
N
D
I
L
E
I
K
E
L
T
K
I
Y
R
R
K
-
-
-
-
-
-
-
-
-
K
P
A
V
D
R
I
C
V
G
I
P
P
G
E
F
G
L
L
1945
ABCA2 2019
R
M
P
V
S
T
K
P
V
E
D
-
D
V
D
V
A
S
E
R
Q
R
V
L
R
G
D
A
D
-
-
-
-
-
N
D
M
V
K
I
E
N
L
T
K
V
Y
K
S
R
K
I
-
-
-
-
-
-
G
R
I
L
A
V
D
R
L
C
L
G
V
R
P
G
E
C
F
G
L
L
2086
ABCA3 1346
T
E
L
Y
T
R
M
P
V
L
P
E
D
Q
D
V
D
E
R
T
R
I
L
A
P
S
P
D
S
L
L
-
-
H
T
P
L
I
K
E
L
S
K
V
Y
E
Q
R
-
-
-
-
-
-
-
-
V
P
L
L
A
V
D
R
L
S
L
A
V
Q
K
G
E
C
F
G
L
L
1415
ABCA5 1254
K
L
P
E
P
P
D
N
E
D
E
D
E
D
V
K
A
E
R
L
K
V
K
E
L
M
G
C
Q
C
C
E
E
K
P
S
I
M
V
S
N
L
H
K
E
Y
D
D
K
K
D
F
L
L
S
R
K
V
K
K
V
A
T
K
Y
I
S
F
C
V
K
K
G
E
I
L
G
L
L
G
1333
ABCA6 1241
A
K
P
N
P
E
E
P
I
D
E
D
E
D
I
Q
T
E
R
I
R
T
A
T
A
L
T
T
S
I
L
D
E
K
P
V
I
I
A
S
C
L
H
K
E
Y
A
G
Q
K
K
S
C
F
S
K
R
K
K
K
I
A
A
R
N
I
S
F
C
V
Q
E
G
E
I
L
G
L
L
G
1320
ABCA7 1761
P
R
V
R
S
L
P
L
L
G
E
E
D
E
D
V
A
R
E
R
V
V
Q
G
A
T
Q
-
-
-
-
-
G
D
V
L
V
L
R
N
L
T
K
V
Y
R
G
Q
-
-
-
-
-
-
-
-
-
R
M
P
A
V
D
L
C
L
G
I
P
E
C
F
G
L
L
1826
ABCA8 1204
V
C
Q
N
P
E
E
P
E
G
E
D
E
D
V
Q
M
E
R
V
R
T
A
N
A
L
N
S
T
N
F
D
E
K
P
V
I
I
A
S
C
L
R
K
E
Y
A
G
K
R
K
G
C
F
S
K
R
K
N
K
I
A
T
R
N
V
S
F
C
V
R
K
G
E
V
L
G
L
L
G
1283
ABCA9 1247
I
F
P
N
P
E
E
P
E
G
E
E
E
D
I
Q
M
E
R
M
R
T
V
N
A
M
A
V
R
D
F
D
E
T
P
V
I
I
A
S
C
L
R
K
E
Y
A
G
K
K
K
N
C
F
S
K
R
K
K
K
I
A
T
R
N
V
S
F
C
V
K
K
G
E
V
I
G
L
L
G
1326
ABCA10 1160
T
H
P
N
P
E
E
P
E
E
D
E
D
V
Q
A
E
R
V
Q
A
A
N
A
L
T
A
P
N
L
E
E
E
P
V
I
T
A
S
C
L
H
K
E
Y
Y
E
T
K
K
S
C
F
S
T
R
K
K
K
I
A
I
R
N
V
S
F
C
V
K
K
G
E
V
L
G
L
L
G
1239
ABCA12 2222
F
N
S
S
H
V
R
E
T
I
D
E
D
E
D
V
R
A
E
R
L
R
V
E
S
G
A
A
E
-
-
-
-
-
F
D
L
V
Q
L
Y
C
L
T
K
T
Y
Q
L
I
H
-
-
-
-
-
-
-
K
K
I
I
A
V
N
N
I
S
I
G
I
P
A
G
E
C
F
G
L
L
2289
ABCA13 4686
H
S
T
L
Q
G
T
V
K
S
S
K
D
T
D
V
E
K
E
E
K
R
V
F
E
G
R
T
N
-
-
-
-
-
G
D
I
L
V
L
Y
N
L
S
K
H
Y
R
F
F
-
-
-
-
-
-
-
Q
N
I
I
A
V
Q
D
I
S
L
G
I
P
K
G
E
C
F
G
L
L
4753