Mutations at homologous positions to ABCA3 p.Arg1561
Alignment: ABCA_full, Alignment of full length ABCA proteins, 2016-02-18 11:17:15Mutations exactly at the same position:
|
SNAP2 PROVEAN Effect_dbs |
||
|---|---|---|
| ABCA3 |
p.Arg1561*
p.Arg1561Lys
p.Arg1561Gln
|
-
-
?
N
N
?
D
D
?
|
| ABCA1 |
p.Val2091Ile
|
N
N
?
|
Mutations +/- 5 a.a. around the position:
| ABCA4 |
p.Ile2113*
p.Ile2113Met
p.Arg2118Glu
p.Glu2119Lys
|
-
-
?
N
N
D
N
?
D
D
?
|
The alignment around the queried position:
5287ABCA3 1522
K
L
S
T
G
I
A
L
I
G
E
P
A
V
I
F
L
D
E
P
S
T
G
M
D
P
V
A
R
W
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
1600
ABCA1 2052
K
L
T
A
M
A
L
I
G
G
P
P
V
V
F
L
D
E
P
T
M
K
A
R
F
L
W
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
2130
ABCA2 2193
K
L
S
T
A
I
A
L
I
G
Y
P
A
F
I
F
L
D
E
P
T
T
G
M
D
P
K
A
R
R
F
L
W
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
2271
ABCA4 2078
K
L
S
T
A
I
A
L
I
G
C
P
P
L
V
L
L
P
T
T
G
M
P
Q
A
M
L
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
2156
ABCA5 1441
L
C
F
A
L
S
M
L
G
N
P
Q
I
T
L
L
D
E
P
S
T
G
M
D
P
K
A
K
Q
H
M
W
R
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
1520
ABCA6 1421
L
C
F
V
L
S
L
L
G
N
S
P
V
L
L
L
D
E
P
S
T
G
I
D
P
T
G
Q
Q
Q
M
W
Q
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
1500
ABCA7 1933
K
L
A
T
A
L
A
L
V
G
D
P
A
V
V
F
L
D
E
T
T
G
M
D
P
S
A
R
R
F
L
W
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
2011
ABCA8 1386
L
C
F
V
L
S
I
L
G
N
P
S
V
V
L
L
D
E
P
S
T
G
M
D
P
E
G
Q
Q
Q
M
W
Q
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
1465
ABCA9 1429
L
C
F
V
L
S
I
L
G
N
P
S
V
V
L
L
D
E
P
S
T
G
M
D
P
E
G
Q
Q
Q
M
W
Q
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
1508
ABCA10 1348
L
C
F
V
L
S
I
L
G
N
P
S
V
V
L
L
D
E
P
F
T
G
M
D
P
E
G
Q
Q
Q
M
W
Q
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
1427
ABCA12 2397
K
L
S
T
A
L
A
L
I
G
K
P
S
I
L
L
L
D
E
P
S
S
G
M
D
P
K
S
K
R
H
L
W
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
2475
ABCA13 4864
K
L
S
T
A
L
A
L
V
G
K
P
D
I
L
L
L
D
E
P
S
S
G
M
D
P
C
S
K
R
Y
L
W
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
4942