Mutations at homologous positions to ABCA4 p.Ile2166
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.Ile2166Met
|
N
N
|
Mutations +/- 5 a.a. around the position:
| ABCA1 |
p.Arg2144*
|
-
-
?
|
| ABCA3 |
p.Gly1608Cys
p.Arg1612Pro
|
D
D
D
N
?
|
The alignment around the queried position:
ABCA4 2127
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
Q
G
N
F
P
G
S
V
Q
R
E
R
H
N
M
L
2206
ABCA1 2101
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
L
A
P
G
S
V
L
K
E
K
H
R
N
M
L
2176
ABCA2 2242
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
N
R
N
F
P
E
A
M
L
K
E
R
H
H
T
K
V
2316
ABCA3 1571
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
D
L
T
F
P
G
S
V
L
E
D
E
H
Q
G
M
V
1648
ABCA5 1491
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
Y
I
F
P
N
A
S
R
Q
E
S
F
S
S
I
L
A
1568
ABCA6 1471
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
K
L
F
P
Q
A
A
G
Q
E
R
Y
S
S
L
L
T
1545
ABCA7 1982
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
A
A
E
F
P
G
A
E
L
R
E
A
H
G
G
R
L
2055
ABCA8 1436
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
R
L
F
P
Q
A
A
R
Q
E
R
Y
S
S
L
M
V
1510
ABCA9 1479
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
R
L
F
P
Q
A
A
Q
Q
E
R
F
S
S
L
M
V
1553
ABCA10 1398
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
K
L
F
P
Q
A
A
W
Q
E
R
Y
S
S
L
M
A
1472
ABCA12 2446
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
Q
L
H
F
P
K
T
Y
L
K
D
Q
H
L
S
M
L
2521
ABCA13 4913
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
K
L
Y
F
P
G
I
Q
F
K
G
Q
H
L
N
L
L
4988