Mutations at homologous positions to ABCA4 p.Thr2070
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.Thr2070Arg
|
N
D
?
|
Mutations +/- 5 a.a. around the position:
| ABCA4 |
p.Tyr2071Phe
p.Ser2072Asn
p.Gly2074Val
|
D
D
?
N
D
?
D
D
?
|
| ABCA1 |
p.Tyr2041Phe
p.Tyr2045Phe
p.Ser2046Asn
p.Ser2046Arg
|
N
N
?
D
D
?
D
D
?
D
D
?
|
| ABCA3 |
p.Tyr1515*
p.Ser1516Asn
|
-
-
?
N
D
?
|
The alignment around the queried position:
5240ABCA4 2031
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
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
2110
ABCA1 2005
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
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
2084
ABCA2 2146
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
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
2225
ABCA3 1475
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
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
1554
ABCA5 1394
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
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
1473
ABCA6 1374
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
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
1453
ABCA7 1886
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
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
1965
ABCA8 1339
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
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
1418
ABCA9 1382
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
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
1461
ABCA10 1301
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
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
1380
ABCA12 2350
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
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
2429
ABCA13 4817
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
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
4896