Mutations at homologous positions to ABCA4 p.Gly991
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.Gly991Arg
p.Gly991*
p.Gly991Val
|
D
D
-
-
D
D
?
|
| ABCA3 |
p.Gly594Arg
|
D
D
?
|
Mutations +/- 5 a.a. around the position:
| ABCA4 |
p.Val989Ala
|
D
D
|
| ABCA1 |
p.Tyr958Phe
p.Arg965Cys
|
N
N
?
D
D
?
|
The alignment around the queried position:
4035ABCA4 952
T
F
N
Q
I
A
F
L
H
A
G
L
I
L
L
L
S
G
T
V
L
G
R
-
-
D
I
E
T
S
L
D
A
V
R
S
L
G
M
C
P
Q
H
N
I
H
H
L
V
A
H
M
L
Y
1029
ABCA1 922
N
F
E
G
Q
I
F
L
G
H
G
G
T
T
M
S
I
L
T
L
F
P
P
T
S
G
T
A
I
L
G
K
-
-
D
I
S
E
S
T
I
R
Q
N
L
G
C
P
Q
H
N
V
L
F
D
M
L
T
V
E
E
H
I
W
F
Y
A
R
999
ABCA2 1013
N
L
Y
E
N
Q
V
V
S
F
L
G
H
N
G
A
G
K
T
T
T
M
S
I
L
T
G
L
F
P
P
T
S
G
S
A
T
I
Y
G
H
-
-
D
I
R
T
E
M
D
E
I
R
K
N
L
G
M
C
P
Q
H
N
V
L
F
D
R
L
T
V
E
E
H
L
W
F
Y
S
R
1090
ABCA3 555
L
Y
E
G
Q
T
V
L
L
G
H
G
K
T
T
L
S
M
T
G
L
F
P
T
S
G
R
A
Y
I
S
Y
-
-
E
I
S
Q
D
M
V
Q
I
K
S
L
G
L
C
P
Q
H
D
I
L
F
D
N
L
T
V
A
E
H
L
Y
F
Y
A
Q
632
ABCA5 504
I
Y
E
G
Q
I
T
A
L
L
G
H
S
G
T
G
K
S
T
L
M
N
I
L
C
G
L
C
P
P
S
D
G
F
A
S
I
Y
G
H
R
V
S
E
I
D
E
M
F
E
A
R
K
M
I
G
I
C
P
Q
L
D
I
H
F
D
V
L
T
V
E
E
N
L
S
I
L
A
S
I
583
ABCA6 504
I
Y
E
G
Q
I
T
A
I
L
G
H
S
G
A
G
K
S
S
L
L
N
I
L
N
G
L
S
V
P
T
E
G
S
V
T
I
Y
N
K
N
L
S
E
M
Q
D
L
E
E
I
R
K
I
T
G
V
C
P
Q
F
N
V
Q
F
D
I
L
T
V
K
E
N
L
S
L
F
A
K
I
583
ABCA7 830
D
F
Y
Q
G
H
I
T
A
F
L
G
H
N
G
G
T
T
T
L
S
I
L
S
G
L
F
P
P
S
G
G
S
A
F
I
L
G
H
-
-
D
V
R
S
S
M
A
I
R
P
H
L
V
C
P
Q
Y
N
V
L
F
D
M
L
T
V
D
E
H
V
W
F
Y
G
R
907
ABCA8 506
I
Y
E
G
Q
I
T
A
I
L
G
H
S
G
A
G
K
S
T
L
L
N
I
L
S
G
L
S
V
P
T
K
G
S
V
T
I
Y
N
N
K
L
S
E
M
A
D
L
E
N
L
S
K
L
T
G
V
C
P
Q
S
N
V
Q
F
D
F
L
T
V
R
E
N
L
R
L
F
A
K
I
585
ABCA9 507
I
Y
E
G
Q
I
T
A
L
L
G
H
S
G
A
G
K
T
T
L
L
N
I
L
S
G
L
S
V
P
T
S
G
S
V
T
V
Y
N
H
T
L
S
R
M
A
D
I
E
N
I
S
K
F
T
G
F
C
P
Q
S
N
V
Q
F
G
F
L
T
V
K
E
N
L
R
L
F
A
K
I
586
ABCA10 417
I
Y
E
G
Q
I
T
A
I
L
G
H
N
G
A
G
K
S
T
L
L
N
I
L
S
G
L
S
V
S
T
E
G
S
A
T
I
Y
N
T
Q
L
S
E
I
T
D
M
E
E
I
R
K
N
I
G
F
C
P
Q
F
N
F
Q
F
D
F
L
T
V
R
E
N
L
R
V
F
A
K
I
496
ABCA12 1367
N
F
Y
E
G
H
I
T
S
L
L
G
P
A
G
K
T
T
T
I
S
M
L
T
G
L
F
G
A
S
A
G
T
I
F
V
Y
G
K
-
-
D
I
K
T
D
L
H
T
V
R
K
N
M
G
V
C
M
Q
H
D
V
L
F
S
Y
L
T
T
K
E
H
L
L
L
Y
G
S
1444
ABCA13 3864
T
F
Y
R
D
Q
I
T
A
L
L
G
T
N
G
A
G
K
T
T
I
I
S
M
L
T
G
L
H
P
P
T
S
G
T
I
I
I
N
G
K
-
-
N
L
Q
T
D
L
S
R
V
R
M
E
L
G
V
C
P
Q
Q
D
I
L
L
D
N
L
T
V
R
E
H
L
L
L
F
A
S
3941