Mutations at homologous positions to ABCA4 p.Phe1839
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.Phe1839Ser
|
D
D
?
|
ABCA3 |
p.His1255Gln
|
D
D
?
|
Mutations +/- 5 a.a. around the position:
ABCA4 |
p.His1838Asp
p.His1838Tyr
p.Arg1843Trp
|
D
D
D
D
D
D
|
ABCA1 |
p.Cys1814Ser
p.Arg1817*
|
D
D
?
-
-
?
|
ABCA3 |
p.Leu1252Pro
p.Pro1253Ser
|
D
D
?
D
D
?
|
The alignment around the queried position:
ABCA4 1804
I
-
-
-
-
S
S
A
I
T
F
I
L
E
L
F
E
N
N
T
L
L
R
F
N
A
V
L
R
K
L
L
I
V
F
P
C
L
G
G
L
D
L
A
L
S
-
-
-
-
-
-
-
-
-
Q
A
V
T
D
V
A
F
G
E
-
E
H
S
A
P
1869
ABCA1 1779
I
N
-
-
-
-
G
S
V
A
T
F
V
L
E
L
F
T
D
N
K
-
L
N
N
I
D
I
L
K
S
V
F
L
I
F
P
H
F
L
G
G
L
I
D
M
V
K
N
-
-
-
-
-
-
-
-
-
Q
A
M
A
D
A
L
E
R
F
G
E
-
N
R
V
S
P
1843
ABCA2 1916
I
T
-
-
-
-
A
T
V
A
T
F
L
L
Q
L
F
E
H
D
K
D
L
K
V
V
N
S
Y
L
K
S
C
F
L
I
F
P
N
Y
N
L
G
H
G
L
M
E
M
A
Y
N
-
-
-
-
-
-
-
-
-
E
Y
I
N
E
Y
Y
A
K
I
G
Q
F
D
K
M
K
S
P
1982
ABCA3 1222
I
A
-
-
-
-
T
F
L
M
V
T
I
M
R
I
P
-
-
A
V
K
L
E
E
L
S
K
T
L
D
H
V
F
L
V
N
C
L
G
M
A
V
S
F
Y
E
N
Y
E
T
R
Y
C
T
S
S
E
V
A
A
H
Y
C
K
K
Y
N
I
Q
Y
Q
E
N
F
1295
ABCA5 1147
A
-
-
-
-
-
-
-
-
C
I
A
I
T
E
I
T
F
F
M
G
Y
T
I
A
T
I
L
H
Y
A
F
C
I
I
I
P
I
Y
P
L
L
G
C
L
I
S
F
I
K
I
S
W
K
N
-
-
V
R
K
N
V
D
T
Y
N
P
W
D
R
L
S
V
A
V
I
S
P
Y
L
1216
ABCA6 1140
I
-
-
-
-
-
-
-
-
M
F
S
I
T
L
I
N
H
F
D
-
-
-
-
-
L
S
I
L
I
T
T
M
V
L
V
P
S
Y
T
L
L
G
F
K
T
F
L
E
V
R
D
Q
E
-
H
Y
R
E
F
P
E
A
N
F
E
L
S
A
T
D
F
L
V
C
F
I
P
Y
F
1205
ABCA7 1660
I
N
-
-
-
-
G
S
M
A
T
F
V
L
E
L
F
S
D
Q
K
-
L
Q
E
V
S
R
I
L
K
V
F
L
I
F
P
H
F
C
L
G
R
G
L
I
D
M
V
R
N
-
-
-
-
-
-
-
-
-
Q
A
M
A
D
A
F
E
L
G
D
-
R
Q
F
Q
S
P
1724
ABCA8 1107
F
-
-
-
-
-
-
-
-
S
V
A
G
F
A
F
S
I
F
E
-
-
-
-
-
S
D
I
P
F
I
F
T
F
L
I
P
P
A
T
M
I
G
C
L
F
L
S
S
H
L
L
F
S
-
-
-
-
S
L
F
S
E
-
E
R
M
D
V
Q
P
F
L
V
F
L
I
P
F
L
1168
ABCA9 1149
F
-
-
-
-
-
-
-
-
S
I
V
A
T
D
L
N
E
Y
G
-
-
-
-
-
F
L
G
L
F
F
G
T
M
L
I
P
P
F
T
L
I
G
S
L
F
I
F
S
E
I
S
P
D
-
-
-
-
S
M
D
Y
L
G
A
S
E
S
E
I
V
Y
L
A
L
L
I
P
Y
L
1211
ABCA10 1058
C
-
-
-
-
-
-
-
-
V
S
T
I
M
V
S
T
Q
Y
E
-
-
-
-
-
K
L
N
L
I
L
C
M
I
F
I
P
S
F
T
L
L
G
Y
V
M
L
L
I
Q
L
D
F
M
R
N
L
D
S
L
D
N
R
I
N
E
V
N
K
T
I
L
L
T
T
L
I
P
Y
L
1124
ABCA12 2111
I
N
S
I
V
S
L
S
V
V
Y
F
L
S
K
E
K
P
N
D
P
T
L
E
L
I
S
E
T
L
K
R
I
L
I
F
P
Q
F
C
F
G
Y
G
L
I
E
L
S
Q
Q
-
-
-
-
-
-
-
-
-
-
Q
S
V
L
D
F
L
K
A
Y
G
V
E
Y
P
N
E
T
2180
ABCA13 4580
L
C
T
M
L
I
T
I
M
P
L
L
A
I
I
S
-
K
A
K
N
L
Q
N
I
Y
D
V
L
K
W
V
F
T
I
F
P
Q
F
C
L
G
Q
G
L
V
E
L
C
Y
N
-
-
-
-
-
-
-
-
-
-
Q
I
K
Y
D
L
T
H
N
F
G
I
D
S
Y
V
S
4648