Mutations at homologous positions to ABCA4 p.Arg943
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.Arg943Gln
p.Arg943Trp
p.Arg943Glu
|
D
N
D
D
D
N
?
|
Mutations +/- 5 a.a. around the position:
| ABCA4 |
p.Phe938Ser
p.Pro940Arg
|
D
D
?
N
N
?
|
| ABCA1 |
p.Arg909*
p.Asp917Tyr
|
-
-
?
D
D
?
|
The alignment around the queried position:
ABCA4 908
E
H
P
E
G
I
-
-
-
-
D
S
F
F
E
R
E
H
P
G
W
V
P
G
V
C
K
N
L
K
I
E
C
G
-
-
P
A
V
D
R
L
N
I
T
F
N
Q
I
A
F
L
H
A
G
L
I
L
L
L
981
ABCA1 885
-
-
-
-
-
-
-
-
-
-
-
E
I
M
E
E
E
P
T
H
L
K
L
G
V
S
I
Q
N
L
V
K
V
Y
D
G
M
K
-
-
V
A
V
G
L
A
L
N
F
E
G
Q
I
F
L
G
H
G
G
T
T
M
S
I
L
T
L
F
P
951
ABCA2 965
A
C
A
M
E
S
R
R
F
E
E
T
R
G
M
E
E
E
P
T
H
L
P
L
V
V
C
V
D
K
L
T
K
V
Y
K
D
D
K
K
-
-
L
A
L
N
K
L
S
L
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
1042
ABCA3 514
L
R
-
-
-
-
-
-
-
-
-
N
E
Y
F
E
A
P
E
D
L
V
A
G
I
K
I
K
H
L
S
K
V
F
R
V
G
N
K
D
R
A
A
V
R
D
L
N
L
L
Y
E
G
Q
T
V
L
L
G
H
G
K
T
T
L
S
M
T
G
L
F
P
584
ABCA5 462
S
E
-
-
-
-
-
-
-
-
I
I
E
P
V
S
S
E
F
V
G
K
E
A
I
R
I
S
G
I
Q
K
T
Y
R
K
K
G
E
N
V
E
A
L
R
N
L
S
F
D
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
533
ABCA6 462
D
D
-
-
-
-
-
-
-
-
Y
F
E
P
V
A
P
E
F
Q
G
K
E
A
I
R
I
R
N
V
K
K
E
Y
K
G
K
S
G
K
V
E
A
L
K
G
L
L
F
D
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
533
ABCA7 793
-
-
-
-
-
-
-
-
-
-
-
K
V
L
V
E
E
A
P
P
G
L
S
P
G
V
S
V
R
S
L
E
K
R
F
P
G
S
P
Q
-
-
P
A
L
R
G
L
S
L
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
859
ABCA8 464
H
D
-
-
-
-
-
-
-
-
S
F
E
Q
A
P
P
E
F
Q
G
K
E
A
I
R
I
R
N
V
T
K
E
Y
K
G
K
P
D
K
I
E
A
L
K
D
L
V
F
D
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
535
ABCA9 465
N
D
-
-
-
-
-
-
-
-
C
F
E
P
V
S
P
E
F
C
G
K
E
A
I
R
I
K
N
L
K
K
E
Y
A
G
K
C
E
R
V
E
A
L
K
G
V
V
F
D
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
536
ABCA10 375
D
D
-
-
-
-
-
-
-
-
S
F
E
P
V
S
P
E
F
H
G
K
E
A
I
R
I
R
N
V
I
K
E
Y
N
G
K
T
G
K
V
E
A
L
Q
G
I
F
F
D
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
446
ABCA12 1322
N
P
S
A
S
P
E
-
Y
M
F
S
S
N
I
E
P
E
P
K
D
L
T
V
G
V
A
L
H
G
V
T
K
I
Y
G
-
-
-
-
S
K
V
A
V
D
N
L
N
L
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
1396
ABCA13 3825
G
S
S
L
Q
-
-
-
-
-
-
-
-
N
R
E
G
E
L
E
G
S
A
P
G
V
T
L
V
S
V
T
K
E
Y
E
G
-
-
-
H
K
A
V
V
Q
D
L
S
L
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
3893