Mutations at homologous positions to ABCA1 p.Val1054
Alignment: ABCA_full, Alignment of full length ABCA proteins, 2016-02-18 11:17:15Mutations exactly at the same position:
|
SNAP2 PROVEAN Effect_dbs |
||
|---|---|---|
| ABCA1 |
p.Val1054Ile
|
N
N
?
|
Mutations +/- 5 a.a. around the position:
| ABCA1 |
p.Leu1056Pro
|
D
D
?
|
| ABCA3 |
p.Glu690Lys
p.Glu690Arg
p.Glu690Asp
p.Glu690Val
|
D
D
?
D
D
?
N
D
?
N
D
?
|
| ABCA4 |
p.Gly1078Glu
p.Glu1087Asp
p.Glu1087Lys
p.Glu1087*
|
N
D
?
D
D
D
D
-
-
?
|
The alignment around the queried position:
4132ABCA1 1015
M
A
L
G
L
P
S
S
K
K
S
K
T
S
Q
L
S
G
M
R
K
L
V
A
L
F
V
G
G
S
K
V
I
D
E
P
T
V
Y
S
R
G
I
W
E
L
L
L
K
Y
R
Q
G
R
T
I
I
L
S
H
H
D
E
A
1094
ABCA2 1106
M
I
E
D
L
E
L
S
N
-
K
R
H
S
L
V
Q
T
L
S
G
G
M
K
R
K
L
S
V
A
I
A
F
V
G
G
S
R
A
I
I
L
D
E
P
T
A
G
V
D
P
Y
A
R
R
A
I
W
D
L
I
L
K
Y
K
P
G
R
T
I
L
L
S
T
H
H
M
D
E
A
1184
ABCA3 648
M
L
H
I
I
G
E
D
-
K
W
N
S
R
S
R
F
L
S
G
M
R
K
L
S
I
G
I
A
L
I
A
G
S
K
V
L
I
L
D
P
T
G
M
A
I
S
R
R
A
I
W
D
L
Q
Q
K
S
D
R
T
I
V
L
T
T
H
F
M
D
A
726
ABCA4 1045
M
E
D
T
L
H
H
-
K
N
E
E
A
Q
D
L
G
G
M
Q
L
A
I
A
F
V
D
A
K
V
V
I
L
D
P
S
G
V
P
Y
S
L
L
L
K
Y
S
G
R
I
I
M
S
H
M
D
A
1123
ABCA5 599
L
L
D
L
D
M
Q
T
-
I
K
D
N
Q
A
K
K
L
S
G
G
Q
K
R
K
L
S
L
G
I
A
V
L
G
N
P
K
I
L
L
L
D
E
P
T
A
G
M
D
P
C
S
R
H
I
V
W
N
L
L
K
Y
R
K
A
N
R
V
T
V
F
S
T
H
F
M
D
E
A
D
677
ABCA6 599
L
L
E
L
D
M
Q
N
-
I
Q
D
N
L
A
K
H
L
S
E
G
Q
K
R
K
L
T
F
G
I
T
I
L
G
D
P
Q
I
L
L
L
D
E
P
T
T
G
L
D
P
F
S
R
D
Q
V
W
S
L
L
R
E
R
R
A
D
H
V
I
L
F
S
T
Q
S
M
D
E
A
D
677
ABCA7 923
L
L
Q
D
V
G
L
V
S
-
K
Q
S
V
Q
T
R
H
L
S
G
G
M
Q
R
K
L
S
V
A
I
F
V
G
G
S
Q
V
V
I
L
D
E
P
T
A
G
V
D
P
A
S
R
G
I
W
E
L
L
L
K
Y
R
E
G
T
L
I
L
S
T
H
H
L
D
E
A
1001
ABCA8 599
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
L
L
D
E
P
T
A
G
L
D
P
F
S
R
H
Q
V
W
N
L
L
K
E
R
K
T
D
R
V
I
L
F
S
T
Q
F
M
D
E
A
D
639
ABCA9 602
V
Q
E
L
E
M
E
N
-
I
Q
D
I
L
A
Q
N
L
S
G
G
Q
N
R
K
L
T
F
G
I
A
I
L
G
D
P
Q
V
L
L
L
D
E
P
T
A
G
L
D
P
L
S
R
H
R
I
W
N
L
L
K
E
G
K
S
D
R
V
I
L
F
S
T
Q
F
I
D
E
A
D
680
ABCA10 512
I
M
E
L
D
M
Q
S
-
I
Q
D
I
I
A
K
K
L
S
G
G
Q
K
R
K
L
T
L
G
I
A
I
L
G
D
P
Q
V
L
L
L
D
E
P
T
A
G
L
D
P
F
S
R
H
R
V
W
S
L
L
K
E
H
K
V
D
R
L
I
L
F
S
T
Q
F
M
D
E
A
D
590
ABCA12 1462
T
L
K
D
T
G
L
Y
S
-
H
R
H
K
R
V
G
T
L
S
G
G
M
K
R
K
L
S
I
S
I
A
L
G
G
S
R
V
V
I
L
D
E
P
S
T
G
V
D
P
C
S
R
S
I
W
D
V
I
S
K
N
K
T
R
T
I
I
L
S
T
H
H
L
D
A
1540
ABCA13 3959
T
L
Q
D
V
D
L
T
Q
-
H
Q
H
K
Q
T
R
A
L
S
G
G
L
K
R
K
L
S
L
G
I
A
F
M
G
M
S
R
T
V
V
L
D
E
P
T
S
G
V
D
P
C
S
R
H
S
L
W
D
I
L
L
K
Y
R
E
G
R
T
I
I
F
T
H
H
L
D
E
A
4037