Mutations at homologous positions to ABCA4 p.Gln1412
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.Gln1412*
p.Gln1412*
|
-
-
-
-
|
| ABCA1 |
p.Glu1386Gln
|
N
N
?
|
| ABCA3 |
p.Gly964Ser
p.Gly964Asp
|
D
D
?
D
D
?
|
Mutations +/- 5 a.a. around the position:
| ABCA4 |
p.Trp1408Arg
p.Trp1408Leu
p.Trp1408*
p.Trp1408Cys
p.Thr1415Pro
p.Phe1416Leu
|
D
D
D
D
-
-
?
D
D
?
D
D
?
D
D
?
|
| ABCA1 |
p.Thr1389Cys
|
D
D
?
|
| ABCA13 |
p.His4262Arg
|
D
!
?
|
| ABCA3 |
p.Leu960Ser
p.Leu960Phe
p.Tyr963Cys
p.Val968Met
|
D
D
?
N
D
?
D
D
?
N
D
?
|
The alignment around the queried position:
ABCA4 1378
V
L
A
T
F
V
F
L
A
M
S
I
I
P
F
G
Y
P
A
-
L
T
L
P
I
Y
G
-
-
-
-
Q
Y
F
S
D
E
P
G
S
E
Q
F
A
D
L
L
K
P
L
K
E
L
P
E
1452
ABCA1 1352
V
L
P
A
V
F
V
I
A
L
V
F
S
L
I
V
P
P
F
G
K
Y
P
-
L
E
Q
P
W
M
Y
N
-
-
-
-
Q
Y
F
V
S
N
D
A
P
E
D
T
G
T
L
E
L
L
N
L
T
K
D
P
G
F
G
T
R
M
E
N
P
I
P
D
1426
ABCA2 1462
L
L
P
A
F
F
V
C
V
A
M
T
V
A
L
S
V
P
E
I
G
D
L
P
P
-
L
V
L
S
P
S
Q
Y
H
N
Y
T
Q
P
R
G
N
F
I
P
Y
A
N
E
E
R
R
E
Y
R
L
R
L
S
P
D
A
S
P
Q
Q
L
V
S
T
F
R
L
P
S
G
V
G
A
1540
ABCA3 931
L
V
L
T
C
V
T
L
A
L
A
I
Y
S
S
E
L
F
D
P
M
-
L
R
L
T
G
E
-
-
-
-
-
-
R
T
V
P
F
S
V
P
G
T
S
Q
L
G
Q
Q
S
E
H
L
K
D
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
989
ABCA5 868
L
L
L
I
F
F
T
V
Q
I
F
M
F
L
V
H
H
S
F
K
N
A
V
V
P
I
K
L
V
P
D
L
Y
F
L
K
-
-
-
-
-
-
-
-
P
G
D
K
P
H
K
Y
K
T
S
L
L
L
Q
N
S
A
D
S
D
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
925
ABCA6 861
V
F
G
I
A
I
F
P
L
I
V
E
N
I
M
Y
A
M
L
N
E
K
I
D
-
W
E
F
K
N
E
L
Y
F
L
S
-
-
-
-
-
-
-
-
P
G
Q
L
P
Q
E
P
R
T
S
L
L
I
I
N
N
T
E
S
N
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
917
ABCA7 1244
V
L
P
A
L
F
V
G
L
A
L
V
F
S
L
I
V
P
P
F
G
H
Y
P
A
-
L
R
L
S
P
T
M
Y
G
-
-
-
-
A
Q
V
S
F
F
S
E
D
A
P
G
D
P
G
R
A
R
L
L
E
A
L
L
Q
E
A
G
L
E
-
-
-
-
-
-
-
-
-
-
E
1308
ABCA8 829
I
L
M
A
G
F
C
P
L
L
V
E
Y
T
M
V
K
I
Y
Q
N
S
Y
T
-
W
E
L
S
P
H
L
Y
F
L
A
-
-
-
-
-
-
-
-
P
G
Q
Q
P
H
D
P
L
T
Q
L
L
I
I
N
K
T
G
A
S
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
885
ABCA9 870
L
F
G
I
S
F
I
P
Q
L
L
E
H
L
F
Y
E
S
Y
Q
K
S
Y
P
-
W
E
L
S
P
N
T
Y
F
L
S
-
-
-
-
-
-
-
-
P
G
Q
Q
P
Q
D
P
L
T
H
L
L
V
I
N
K
T
G
S
T
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
926
ABCA10 780
V
L
G
I
A
F
I
P
I
I
L
E
K
I
M
Y
K
V
T
R
E
T
H
C
-
W
E
F
S
P
S
M
Y
F
L
S
-
-
-
-
-
-
-
-
L
E
Q
I
P
K
T
P
L
T
S
L
L
I
V
N
N
T
G
S
N
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
836
ABCA12 1752
I
L
P
I
V
F
V
T
T
A
M
G
L
G
T
L
R
N
S
S
N
S
Y
P
E
-
I
Q
I
S
P
S
L
Y
G
T
S
-
-
E
Q
T
A
F
Y
A
N
Y
H
S
T
E
A
L
V
S
A
M
W
D
F
P
G
I
D
N
M
C
-
-
-
-
-
-
-
-
-
-
-
1818
ABCA13 4231
L
L
P
V
L
F
V
A
L
A
M
G
L
F
M
V
R
P
L
A
T
E
Y
P
P
-
L
R
L
T
P
G
Y
Q
R
-
-
-
A
E
T
Y
F
F
S
S
G
G
D
N
L
D
L
T
R
V
L
L
R
K
F
R
D
Q
D
-
-
-
-
-
-
-
-
-
-
-
-
-
-
4293