Mutations at homologous positions to ABCA4 p.Arg2077
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.Arg2077Trp
p.Arg2077Gly
|
D
D
D
D
|
| ABCA3 |
p.Arg1521Trp
|
D
D
?
|
Mutations +/- 5 a.a. around the position:
| ABCA4 |
p.Ser2072Asn
p.Gly2074Val
|
N
D
?
D
D
?
|
| ABCA1 |
p.Ser2046Asn
p.Ser2046Arg
p.Ser2054Ala
|
D
D
?
D
D
?
N
N
?
|
| ABCA3 |
p.Ser1516Asn
|
N
D
?
|
The alignment around the queried position:
5247ABCA4 2038
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
N
K
K
L
S
T
A
I
A
L
I
G
C
P
P
L
V
L
L
P
T
T
G
M
P
Q
A
M
L
N
V
V
S
I
I
2117
ABCA1 2012
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
G
N
K
R
K
L
T
A
M
A
L
I
G
G
P
P
V
V
F
L
D
E
P
T
M
K
A
R
F
L
W
N
C
A
L
S
V
2091
ABCA2 2153
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
G
N
K
R
K
L
S
T
A
I
A
L
I
G
Y
P
A
F
I
F
L
D
E
P
T
T
G
M
D
P
K
A
R
R
F
L
W
N
L
I
L
D
L
I
2232
ABCA3 1482
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
G
N
K
K
L
S
T
G
I
A
L
I
G
E
P
A
V
I
F
L
D
E
P
S
T
G
M
D
P
V
A
R
W
D
T
V
A
R
A
1561
ABCA5 1401
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
I
K
R
K
L
C
F
A
L
S
M
L
G
N
P
Q
I
T
L
L
D
E
P
S
T
G
M
D
P
K
A
K
Q
H
M
W
R
A
I
R
T
A
F
K
1480
ABCA6 1381
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
I
T
R
K
L
C
F
V
L
S
L
L
G
N
S
P
V
L
L
L
D
E
P
S
T
G
I
D
P
T
G
Q
Q
Q
M
W
Q
A
I
Q
A
V
V
K
1460
ABCA7 1893
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
G
N
K
R
K
L
A
T
A
L
A
L
V
G
D
P
A
V
V
F
L
D
E
T
T
G
M
D
P
S
A
R
R
F
L
W
N
S
L
L
A
V
V
1972
ABCA8 1346
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
I
K
R
K
L
C
F
V
L
S
I
L
G
N
P
S
V
V
L
L
D
E
P
S
T
G
M
D
P
E
G
Q
Q
Q
M
W
Q
A
I
R
A
T
F
R
1425
ABCA9 1389
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
I
K
R
K
L
C
F
V
L
S
I
L
G
N
P
S
V
V
L
L
D
E
P
S
T
G
M
D
P
E
G
Q
Q
Q
M
W
Q
V
I
R
A
T
F
R
1468
ABCA10 1308
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
I
K
R
K
L
C
F
V
L
S
I
L
G
N
P
S
V
V
L
L
D
E
P
F
T
G
M
D
P
E
G
Q
Q
Q
M
W
Q
I
L
Q
A
T
V
K
1387
ABCA12 2357
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
G
T
K
R
K
L
S
T
A
L
A
L
I
G
K
P
S
I
L
L
L
D
E
P
S
S
G
M
D
P
K
S
K
R
H
L
W
K
I
I
S
E
E
V
2436
ABCA13 4824
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
G
T
K
R
K
L
S
T
A
L
A
L
V
G
K
P
D
I
L
L
L
D
E
P
S
S
G
M
D
P
C
S
K
R
Y
L
W
Q
T
I
M
K
E
V
4903