Mutations at homologous positions to ABCA4 p.Leu2033
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.Leu2033Arg
|
D
D
?
|
Mutations +/- 5 a.a. around the position:
| ABCA4 |
p.Arg2030*
p.Arg2030Gln
p.Arg2030*
p.His2032Arg
p.Leu2035Pro
p.Arg2038Trp
|
-
-
D
D
D
D
-
-
D
N
D
?
D
D
D
D
|
| ABCA1 |
p.Arg2004Lys
p.Phe2009Ser
p.Phe2009Tyr
|
N
N
?
D
D
D
N
N
?
|
| ABCA3 |
p.Arg1474Trp
p.Arg1482Trp
|
D
D
?
D
D
?
|
| ABCA7 |
p.Thr1883Met
|
N
D
?
|
The alignment around the queried position:
5203ABCA4 1998
V
A
-
-
-
-
G
K
S
I
L
T
N
I
S
E
V
H
Q
N
M
G
Y
C
P
Q
F
D
A
I
D
E
L
T
G
E
Y
Y
A
L
G
V
P
A
E
E
E
K
A
N
W
S
I
S
T
V
Y
A
D
C
L
A
G
G
2073
ABCA1 1972
L
N
-
-
-
-
N
S
I
L
S
N
I
H
E
V
H
Q
N
M
G
C
P
Q
F
D
A
I
T
E
L
L
T
G
E
H
V
E
F
A
L
L
R
G
V
P
E
K
E
V
G
K
V
G
E
W
I
R
L
G
L
V
K
Y
G
E
K
A
G
N
G
2047
ABCA2 2113
V
N
-
-
-
-
G
H
S
V
L
K
E
L
L
Q
V
Q
Q
S
L
G
Y
C
P
Q
D
A
L
F
D
E
L
T
A
R
E
H
L
Q
L
Y
T
R
L
R
G
I
S
W
K
D
E
A
R
V
V
K
W
A
L
E
K
L
E
L
T
K
Y
A
D
K
P
A
G
T
Y
S
G
2188
ABCA3 1442
V
G
-
-
-
-
G
H
R
I
S
S
D
V
G
K
V
R
Q
I
G
Y
C
P
Q
F
L
L
D
H
M
T
G
E
M
L
V
M
Y
A
L
R
G
I
P
E
R
H
I
G
A
C
E
N
T
L
R
G
L
L
L
E
P
H
A
N
K
L
V
R
T
G
1517
ABCA5 1360
G
D
Y
-
-
S
S
E
T
S
E
-
D
D
D
S
L
K
C
M
G
Y
C
P
Q
I
N
P
L
W
P
D
T
T
L
Q
E
H
F
E
I
Y
G
A
V
K
G
M
S
A
S
D
M
K
E
V
I
S
R
I
T
H
A
L
D
L
K
E
H
L
Q
K
T
V
K
K
L
P
A
G
1436
ABCA6 1347
K
G
-
-
-
-
-
-
-
-
-
-
C
S
S
V
L
G
H
L
G
Y
P
Q
E
N
V
L
W
P
M
L
T
L
R
E
H
L
E
V
Y
A
A
V
K
G
L
R
K
A
D
A
R
L
A
I
A
R
L
V
S
A
F
K
L
H
E
Q
L
N
V
P
V
Q
K
L
T
A
G
1416
ABCA7 1853
L
A
-
-
-
-
G
H
S
V
A
R
E
P
A
A
H
L
S
M
G
Y
C
P
Q
S
D
A
I
F
E
L
L
G
R
E
H
L
E
L
L
A
R
L
R
G
V
P
E
A
Q
V
A
Q
T
A
G
S
G
L
A
R
L
G
L
S
W
Y
A
D
R
P
A
G
T
Y
S
G
1928
ABCA8 1310
K
G
S
-
-
G
-
-
-
-
-
-
G
G
D
A
L
E
F
L
G
Y
C
P
Q
E
N
A
L
W
P
N
L
T
V
R
Q
H
L
E
V
Y
A
A
V
K
G
L
R
K
G
D
A
E
V
A
I
T
R
L
V
D
A
L
K
L
Q
D
Q
L
K
S
P
V
K
T
L
S
E
G
1381
ABCA9 1353
K
G
S
-
-
G
-
-
-
-
-
-
G
G
E
P
L
G
F
L
G
Y
C
P
Q
E
N
A
L
W
P
N
L
T
V
R
Q
H
L
E
V
Y
A
A
V
K
G
L
R
K
G
D
A
M
I
A
I
T
R
L
V
D
A
L
K
L
Q
D
Q
L
K
A
P
V
K
T
L
S
E
G
1424
ABCA10 1266
Q
G
S
-
-
R
A
S
V
R
Q
Q
H
D
N
S
L
K
F
L
G
Y
C
P
Q
E
N
S
L
W
P
K
L
T
M
K
E
H
L
E
L
Y
A
A
V
K
G
L
G
K
E
D
A
A
L
S
I
S
R
L
V
E
A
L
K
L
Q
E
Q
L
K
A
P
V
K
T
L
S
E
G
1343
ABCA12 2316
I
R
N
K
T
G
-
-
-
S
L
G
H
V
D
S
H
S
S
L
V
G
Y
C
P
Q
E
D
A
L
D
D
L
V
T
V
E
E
H
L
Y
F
Y
A
R
V
H
G
I
P
E
K
D
I
K
E
T
V
H
K
L
L
R
R
L
H
L
M
P
F
K
D
R
A
T
S
M
C
S
Y
2392
ABCA13 4780
I
R
T
P
M
G
D
A
V
D
L
S
S
A
G
T
A
G
V
L
I
G
Y
C
P
Q
Q
D
A
L
D
E
L
L
T
G
W
E
H
L
Y
Y
Y
C
S
L
R
G
I
P
R
Q
C
I
P
E
V
A
G
D
L
R
L
H
L
E
A
H
A
D
K
P
V
A
T
Y
S
G
4859