Mutations at homologous positions to ABCA4 p.Glu1271
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.Glu1271Gly
p.Glu1271Asp
|
N
D
?
N
D
?
|
| ABCA1 |
p.Glu1246Gln
|
D
D
?
|
Mutations +/- 5 a.a. around the position:
| ABCA4 |
p.Glu1270*
|
-
-
|
| ABCA1 |
p.Thr1242Ala
p.Thr1242Asp
p.Thr1243Ala
p.Thr1243Asp
p.Leu1244Gln
p.Glu1245Gln
p.Val1251Arg
|
D
D
?
D
D
?
D
N
?
D
N
?
D
D
?
D
D
?
D
D
?
|
| ABCA3 |
p.Val839Phe
|
N
D
?
|
The alignment around the queried position:
ABCA4 1233
L
P
N
K
N
F
K
H
R
-
A
Y
A
S
F
R
E
E
L
A
D
L
G
L
S
S
F
G
I
S
D
T
P
L
I
F
L
K
V
T
E
D
S
D
S
G
P
L
F
A
G
G
A
Q
Q
K
R
E
N
V
N
P
-
-
-
-
-
-
-
-
-
-
H
1301
ABCA1 1208
L
P
Y
E
A
A
K
E
-
A
F
V
E
L
F
H
E
I
D
D
R
S
D
L
G
I
S
S
Y
G
I
S
E
I
F
L
K
A
E
V
D
A
E
T
S
D
G
T
L
P
A
R
N
R
R
-
-
-
-
-
-
-
-
-
-
-
A
F
1275
ABCA2 1278
L
P
S
E
A
A
K
K
G
-
A
F
E
R
L
F
Q
H
L
E
R
S
L
D
A
L
H
L
S
S
F
G
L
M
D
T
T
L
E
E
V
F
L
K
V
S
E
E
D
Q
S
L
E
N
S
E
A
D
V
K
E
S
R
K
D
V
L
P
G
A
E
P
A
S
G
E
G
H
A
1356
ABCA3 798
P
R
E
S
H
R
-
-
-
F
E
G
L
F
A
K
L
E
K
K
Q
K
E
L
G
I
S
F
G
A
S
I
T
T
M
E
E
V
F
L
R
G
K
L
V
D
S
S
M
D
I
Q
A
I
Q
L
P
A
L
Q
Y
Q
H
E
R
-
-
-
-
-
-
-
-
-
-
-
864
ABCA5 749
P
F
K
D
M
D
K
-
-
-
F
S
G
L
F
S
A
L
D
S
-
H
S
N
L
G
V
I
S
Y
G
V
S
M
T
T
L
E
D
V
F
L
K
L
E
V
E
A
E
I
D
Q
A
D
Y
S
V
F
T
Q
Q
P
L
E
E
E
M
D
-
-
-
-
-
-
-
-
-
-
-
-
813
ABCA6 749
P
L
E
R
T
N
T
-
-
-
F
P
D
L
F
S
D
L
D
K
-
C
S
D
Q
G
V
T
G
Y
D
I
S
M
S
T
L
N
E
V
F
M
K
L
E
G
Q
S
T
I
E
Q
D
-
-
-
-
-
-
F
E
Q
V
E
M
I
R
D
-
-
-
-
-
-
-
-
-
-
-
-
807
ABCA7 1103
L
P
Y
G
A
H
D
G
-
S
F
A
T
L
F
R
E
L
D
T
R
L
A
E
L
R
L
T
G
Y
G
I
S
D
T
S
L
E
E
I
F
L
K
V
V
E
E
C
A
A
D
T
D
M
E
D
G
S
C
G
Q
H
L
C
T
G
-
-
-
-
-
-
-
-
-
-
-
I
A
1170
ABCA8 711
P
L
E
R
T
N
K
-
-
-
F
P
E
L
Y
K
D
L
D
S
-
Y
P
D
L
G
I
E
N
Y
G
V
S
M
T
T
L
N
E
V
F
L
K
L
E
G
K
S
T
I
N
E
S
D
I
A
I
L
G
E
V
Q
A
E
K
A
D
D
-
-
-
-
-
-
-
-
-
-
-
-
775
ABCA9 752
P
L
E
R
T
N
K
-
-
-
F
P
E
L
Y
R
D
L
D
R
-
C
S
N
Q
G
I
E
D
Y
G
V
S
I
T
T
L
N
E
V
F
L
K
L
E
G
K
S
T
I
D
E
S
D
I
G
I
W
G
Q
L
Q
T
D
G
A
K
D
-
-
-
-
-
-
-
-
-
-
-
-
816
ABCA10 662
P
L
E
K
T
N
K
-
-
-
F
P
D
L
Y
S
D
L
D
K
-
C
S
D
Q
G
I
R
N
Y
A
V
S
V
T
S
L
N
E
V
F
L
N
L
E
G
K
S
A
I
D
E
P
D
F
D
I
G
K
Q
E
K
I
H
V
T
R
N
-
-
-
-
-
-
-
-
-
-
-
-
726
ABCA12 1620
L
P
P
F
S
T
K
V
S
G
A
Y
L
S
L
L
R
A
L
D
N
G
M
G
D
L
N
I
G
C
Y
I
S
D
T
T
V
E
E
V
F
L
N
L
T
K
E
S
Q
K
N
S
A
M
S
L
E
H
L
T
Q
K
K
I
G
N
S
N
-
-
-
-
-
-
-
-
-
-
-
1689
ABCA13 4116
I
P
K
D
T
D
K
A
C
-
-
L
K
G
L
F
Q
A
L
D
E
N
L
H
Q
L
H
L
T
G
Y
G
I
S
D
T
T
L
E
E
V
F
L
M
L
L
Q
D
S
N
K
K
S
H
I
A
L
G
-
-
T
E
S
E
L
Q
N
H
R
-
-
-
-
-
-
-
-
-
-
-
4181