Mutations at homologous positions to ABCA4 p.Phe2219
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.Phe2219Ala
|
D
D
?
|
Mutations +/- 5 a.a. around the position:
ABCA4 |
p.Ala2216Val
p.Gln2220*
p.Gln2220*
p.Leu2221Pro
|
N
D
?
-
-
-
-
D
N
?
|
ABCA1 |
p.Gln2196His
|
N
N
?
|
ABCA3 |
p.Ala1660Val
|
N
D
?
|
The alignment around the queried position:
ABCA4 2183
N
P
V
E
Q
F
Q
G
N
F
P
G
S
V
Q
R
E
R
H
N
M
L
Q
F
Q
V
S
-
-
-
S
S
S
L
R
I
L
L
S
H
K
D
S
L
I
E
E
Y
V
Q
T
D
Q
F
V
N
F
A
K
Q
Q
T
E
-
-
-
-
2256
ABCA1 2153
K
P
V
Q
D
F
F
L
A
P
G
S
V
L
K
E
K
H
R
N
M
L
Q
Q
L
P
-
S
S
L
S
S
L
A
R
I
F
S
I
L
S
S
K
K
R
L
H
I
E
D
Y
S
V
S
T
T
L
D
V
F
V
N
F
A
K
D
Q
S
D
D
D
H
L
K
2231
ABCA2 2293
K
D
V
V
R
F
F
N
R
N
F
P
E
A
M
L
K
E
R
H
H
T
K
V
Q
Y
Q
L
K
-
S
E
H
I
S
L
A
Q
V
F
S
K
M
E
Q
V
S
G
V
L
G
I
E
D
Y
S
V
S
Q
T
T
L
D
N
V
F
V
N
F
A
K
K
Q
S
D
N
L
E
Q
Q
2371
ABCA3 1625
E
E
F
K
A
F
V
D
L
T
F
P
G
S
V
L
E
D
E
H
Q
G
M
V
H
Y
H
L
-
G
R
D
L
S
W
K
V
F
G
I
L
E
K
A
K
E
K
Y
G
V
D
D
Y
S
V
S
Q
I
S
L
E
Q
V
F
L
S
F
A
H
L
Q
P
P
T
A
E
E
G
1703
ABCA5 1545
R
L
Q
R
E
I
Q
Y
I
F
P
N
A
S
R
Q
E
S
F
S
S
I
L
A
Y
K
I
P
K
E
D
V
Q
S
L
S
Q
S
F
F
K
L
E
E
A
K
H
A
F
A
I
E
E
Y
S
F
S
Q
A
T
L
E
Q
V
F
V
E
L
T
K
E
Q
E
E
E
-
-
-
-
-
1620
ABCA6 1522
L
V
H
T
E
I
L
K
L
F
P
Q
A
A
G
Q
E
R
Y
S
S
L
L
T
Y
K
L
P
V
A
D
V
Y
P
L
S
Q
T
F
H
K
L
E
A
V
K
H
N
F
N
L
E
E
Y
S
L
S
Q
C
T
L
E
K
V
F
L
E
L
S
K
E
Q
E
V
G
-
-
-
-
-
1597
ABCA7 2032
Q
P
A
A
A
F
V
A
A
E
F
P
G
A
E
L
R
E
A
H
G
G
R
L
R
F
Q
L
P
P
G
G
R
C
A
L
A
R
V
F
G
E
L
A
V
H
G
A
E
H
G
V
E
D
F
S
V
S
Q
T
M
L
E
E
V
F
L
Y
F
S
K
D
Q
G
K
D
D
T
E
2111
ABCA8 1487
P
L
H
A
E
I
L
R
L
F
P
Q
A
A
R
Q
E
R
Y
S
S
L
M
V
Y
K
L
P
V
E
D
V
Q
P
L
A
Q
A
F
F
K
L
E
K
V
K
Q
S
F
D
L
E
E
Y
S
L
S
Q
S
T
L
E
Q
V
F
L
E
L
S
K
E
Q
E
L
G
-
-
-
-
-
1562
ABCA9 1530
P
L
H
A
E
I
L
R
L
F
P
Q
A
A
Q
Q
E
R
F
S
S
L
M
V
Y
K
L
P
V
E
D
V
R
P
L
S
Q
A
F
F
K
L
E
I
V
K
Q
S
F
D
L
E
E
Y
S
L
S
Q
S
T
L
E
Q
V
F
L
E
L
S
K
E
Q
E
L
G
-
-
-
-
-
1605
ABCA10 1449
A
L
H
T
E
I
L
K
L
F
P
Q
A
A
W
Q
E
R
Y
S
S
L
M
A
Y
K
L
P
V
E
D
V
H
P
L
S
R
A
F
F
K
L
E
A
M
K
Q
T
F
N
L
E
E
Y
S
L
S
Q
A
T
L
E
Q
V
F
L
E
L
C
K
E
Q
E
L
G
-
-
-
-
-
1524
ABCA12 2498
E
T
L
T
K
F
M
Q
L
H
F
P
K
T
Y
L
K
D
Q
H
L
S
M
L
E
Y
H
V
P
-
V
T
A
G
G
V
A
N
I
F
D
L
L
E
T
N
K
T
A
L
N
I
T
N
F
L
V
S
Q
T
T
L
E
E
V
F
I
N
F
A
K
D
Q
K
S
Y
-
-
-
-
2573
ABCA13 4965
C
T
V
S
D
H
L
K
L
Y
F
P
G
I
Q
F
K
G
Q
H
L
N
L
L
E
Y
H
V
P
-
K
R
W
G
C
L
A
D
L
F
K
V
I
E
N
N
K
T
F
L
N
I
K
H
Y
S
I
N
Q
T
T
L
E
Q
V
F
I
N
F
A
S
E
Q
Q
-
-
-
-
-
-
5038