Mutations at homologous positions to ABCA4 p.Leu1390
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.Leu1390Pro
|
D
D
|
Mutations +/- 5 a.a. around the position:
ABCA4 |
p.Leu1388Pro
p.Val1393Ile
p.Pro1395Leu
|
D
D
N
N
?
D
D
?
|
ABCA1 |
p.Cys1359Arg
|
D
D
?
|
ABCA3 |
p.Leu941Pro
p.Asn945Gln
|
D
D
?
N
N
?
|
The alignment around the queried position:
ABCA4 1351
V
Q
H
V
Q
L
V
K
R
F
Q
H
T
I
S
H
K
D
F
L
A
Q
I
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
1425
ABCA1 1325
T
Q
Q
F
V
A
L
L
W
K
R
L
L
I
A
R
S
R
K
G
F
F
A
Q
I
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
1399
ABCA2 1435
K
V
R
Q
F
H
G
L
L
V
K
R
F
H
C
A
R
R
N
S
K
A
L
F
S
Q
I
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
1513
ABCA3 904
H
C
Q
Q
F
W
A
M
F
L
K
A
A
Y
S
W
R
E
W
K
M
V
A
A
Q
V
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
976
ABCA5 841
K
Q
Q
M
Y
T
I
A
K
F
H
F
F
T
L
K
R
E
S
K
S
V
R
S
V
L
L
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
912
ABCA6 834
R
M
Q
V
F
A
M
A
R
L
R
F
L
K
L
K
R
Q
T
K
V
L
L
T
L
L
L
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
904
ABCA7 1217
T
R
Q
Q
L
Q
A
L
L
L
K
R
F
L
L
A
R
R
S
R
R
G
L
F
A
Q
I
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
1291
ABCA8 802
R
Q
Q
I
C
A
I
A
R
V
R
L
L
K
L
K
H
E
R
K
A
L
L
A
L
L
L
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
872
ABCA9 843
R
Q
Q
V
C
A
I
A
K
V
R
F
L
K
L
K
K
E
R
K
S
L
W
T
I
L
L
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
913
ABCA10 753
R
R
Q
I
Y
A
V
A
T
L
R
F
L
K
L
R
R
E
R
R
A
L
L
C
L
L
L
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
823
ABCA12 1725
L
L
K
K
I
M
A
I
L
I
K
R
F
H
H
T
R
R
N
K
G
L
I
A
Q
V
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
1801
ABCA13 4204
L
R
A
Q
V
A
A
I
L
A
R
R
L
R
R
T
L
R
A
G
K
S
T
L
A
D
L
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
4279