Mutations at homologous positions to ABCA4 p.Arg1129
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.Arg1129Leu
p.Arg1129His
p.Arg1129Cys
|
D
D
D
D
?
D
D
?
|
Mutations +/- 5 a.a. around the position:
| ABCA4 |
p.Asp1124Tyr
p.Gly1127Glu
p.Gly1127Lys
p.Ile1133Thr
|
D
D
?
D
D
?
D
D
?
D
D
?
|
| ABCA1 |
p.Val1096Ile
p.Leu1097Pro
p.Asp1099Tyr
|
N
N
?
D
D
?
D
D
D
|
| ABCA13 |
p.Leu4047Val
|
N
!
?
|
The alignment around the queried position:
ABCA4 1090
S
G
V
P
Y
S
L
L
L
K
Y
S
G
R
I
I
M
S
H
M
D
A
L
L
D
I
A
I
A
Q
G
R
Y
C
S
G
T
P
L
F
L
N
F
G
T
G
L
Y
L
T
L
V
K
M
K
N
I
Q
S
Q
1169
ABCA1 1061
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
D
G
R
I
A
I
I
S
H
G
K
L
V
G
S
S
L
F
L
K
N
Q
L
G
T
G
Y
Y
L
T
L
V
K
K
D
V
E
S
S
L
S
1140
ABCA2 1151
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
D
L
L
G
D
R
I
A
I
I
S
H
G
K
L
K
C
C
G
S
P
L
F
L
K
G
T
Y
G
D
G
Y
R
L
T
L
V
K
R
P
A
E
P
G
G
P
1230
ABCA3 693
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
D
L
L
G
D
R
I
A
I
M
A
K
E
L
Q
C
C
G
S
S
L
F
L
K
Q
K
Y
G
A
G
Y
H
L
V
K
E
H
-
-
-
-
-
768
ABCA5 644
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
I
L
A
D
R
K
A
V
I
S
Q
G
M
L
K
C
V
G
S
S
M
F
L
K
S
K
W
G
I
G
Y
R
L
S
M
Y
I
D
K
Y
-
-
-
-
-
-
718
ABCA6 644
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
I
L
A
D
R
K
V
I
M
S
N
G
R
L
K
C
A
G
S
S
M
F
L
K
R
R
W
G
L
G
Y
H
L
S
L
H
R
N
E
I
-
-
-
-
-
-
718
ABCA7 968
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
E
L
L
G
D
R
V
A
V
V
A
G
G
R
L
C
C
C
G
S
P
L
F
L
R
R
H
L
G
S
G
Y
Y
L
T
L
V
K
A
R
L
P
L
T
T
N
1047
ABCA8 606
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
I
L
A
D
R
K
V
F
L
S
Q
G
K
L
K
C
A
G
S
S
L
F
L
K
K
K
W
G
I
G
Y
H
L
S
L
Q
L
N
E
I
-
-
-
-
-
-
680
ABCA9 647
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
I
L
A
D
R
K
V
F
I
S
N
G
K
L
K
C
A
G
S
S
L
F
L
K
K
K
W
G
I
G
Y
H
L
S
L
H
L
N
E
R
-
-
-
-
-
-
721
ABCA10 557
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
I
L
A
D
R
K
V
F
L
S
N
G
K
L
K
C
A
G
S
S
L
F
L
K
R
K
W
G
I
G
Y
H
L
S
L
H
R
N
E
M
-
-
-
-
-
-
631
ABCA12 1507
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
E
V
L
S
D
R
I
A
F
L
E
Q
G
G
L
R
C
C
G
S
P
F
Y
L
K
E
A
F
G
D
G
Y
H
L
L
T
K
K
K
S
P
N
L
N
A
1586
ABCA13 4004
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
E
A
L
S
D
R
V
A
V
Q
H
G
R
L
R
C
C
G
P
P
F
C
L
K
E
A
Y
G
Q
G
L
R
L
T
L
T
R
Q
P
S
-
V
L
E
A
4082