Mutations at homologous positions to ABCA4 p.Lys2172
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.Lys2172Arg
|
N
N
?
|
Mutations +/- 5 a.a. around the position:
ABCA4 |
p.Lys2175Ala
p.Asp2177Asn
|
N
N
?
D
N
|
ABCA1 |
p.Arg2144*
p.Pro2150Leu
|
-
-
?
D
D
?
|
ABCA3 |
p.Arg1612Pro
|
D
N
?
|
The alignment around the queried position:
ABCA4 2133
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
Q
F
Q
V
S
-
2212
ABCA1 2107
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
Q
Q
L
P
-
2182
ABCA2 2248
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
Q
Y
Q
L
K
-
2322
ABCA3 1577
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
H
Y
H
L
-
1654
ABCA5 1497
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
Y
K
I
P
K
E
1574
ABCA6 1477
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
Y
K
L
P
V
A
1551
ABCA7 1988
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
R
F
Q
L
P
P
2061
ABCA8 1442
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
Y
K
L
P
V
E
1516
ABCA9 1485
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
Y
K
L
P
V
E
1559
ABCA10 1404
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
Y
K
L
P
V
E
1478
ABCA12 2452
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
E
Y
H
V
P
-
2527
ABCA13 4919
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
E
Y
H
V
P
-
4994