Mutations at homologous positions to ABCA4 p.Arg537
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.Arg537Cys
|
D
D
|
Mutations +/- 5 a.a. around the position:
ABCA4 |
p.Ala538Asp
p.Ala538Val
p.Leu541Pro
|
N
D
?
N
D
?
D
D
|
ABCA3 |
p.Trp165*
|
-
-
?
|
The alignment around the queried position:
ABCA4 498
W
R
D
I
F
N
I
R
T
L
V
N
Q
Y
L
E
C
L
V
L
K
S
Y
D
E
T
Q
L
T
Q
L
S
L
E
E
N
-
-
M
F
W
V
F
P
D
M
Y
P
W
T
S
S
L
P
P
-
-
-
-
-
-
-
-
-
H
566
ABCA1 483
T
W
R
E
A
F
N
E
T
N
Q
I
R
T
I
S
R
F
M
E
V
N
L
N
K
L
E
P
I
A
T
E
V
W
L
I
N
K
S
M
E
L
L
D
E
R
-
-
F
W
A
G
I
V
F
T
G
I
T
P
G
S
E
L
P
H
-
-
-
-
-
-
-
-
-
551
ABCA2 552
A
L
L
Q
Q
L
D
T
I
D
N
A
A
C
G
W
I
Q
F
M
S
K
V
S
V
D
I
F
K
G
F
H
D
E
E
S
I
V
N
Y
T
L
N
Q
A
Y
Q
D
N
V
T
V
F
A
S
V
I
F
Q
T
R
K
D
G
S
L
P
P
-
-
-
-
-
-
-
-
-
-
-
H
620
ABCA3 134
V
F
E
H
P
F
H
S
K
E
P
L
L
A
V
K
Y
H
L
F
S
Y
T
R
R
N
Y
M
T
Q
T
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
G
S
F
F
L
K
E
T
E
G
-
-
-
-
-
-
-
-
-
-
-
-
-
-
H
180
ABCA5 77
L
I
L
G
Y
T
P
V
T
N
I
T
S
S
I
M
Q
K
V
S
T
D
H
L
P
D
V
I
I
T
E
E
Y
T
N
E
K
E
M
L
T
S
S
L
S
K
P
-
-
S
N
F
V
G
V
V
F
K
D
S
M
S
Y
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
E
L
139
ABCA6 75
L
M
V
V
Y
T
P
I
S
N
L
T
Q
Q
I
M
N
K
T
A
L
A
P
L
L
K
G
T
S
V
I
G
A
P
N
K
T
H
M
D
E
I
L
L
E
N
L
-
-
P
Y
A
M
G
I
I
F
N
E
T
F
S
Y
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
K
L
137
ABCA7 385
S
W
Q
D
A
H
A
D
V
G
L
V
G
T
G
R
V
T
E
C
L
S
L
D
K
L
E
A
A
P
S
E
A
A
L
V
S
R
A
L
Q
L
L
A
E
H
-
-
R
F
W
A
G
V
V
F
L
P
E
D
S
S
D
P
T
E
H
P
T
-
P
D
L
G
P
G
H
461
ABCA8 75
F
S
V
V
Y
T
P
V
T
N
T
T
Q
Q
I
M
N
K
V
A
S
T
P
F
L
A
G
K
E
V
L
G
L
P
D
E
E
S
I
K
E
F
T
A
N
Y
P
-
-
E
E
I
V
R
V
T
F
T
N
T
Y
S
Y
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
H
L
137
ABCA9 76
Y
V
I
A
F
A
P
E
S
K
T
T
Q
E
I
M
N
K
V
A
S
A
P
F
L
K
G
R
T
I
M
G
W
P
D
E
K
S
M
D
E
L
D
L
N
Y
S
-
-
I
D
A
V
R
V
I
F
T
D
T
F
S
Y
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
H
L
138
ABCA10 1
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
M
N
K
M
A
L
A
S
F
M
K
G
R
T
V
I
G
T
P
D
E
E
T
M
D
I
E
L
P
K
K
Y
-
-
H
E
M
V
G
V
I
F
S
D
T
F
S
Y
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
R
L
48
ABCA12 903
N
N
I
D
I
I
D
Q
L
N
T
L
S
S
L
T
V
N
I
S
S
C
V
L
Y
D
R
I
Q
A
A
K
T
I
D
E
M
E
R
E
A
K
R
L
Y
K
S
N
-
-
E
L
F
G
S
V
I
F
K
L
P
S
N
R
S
W
H
R
Y
D
S
G
N
V
F
L
P
P
V
980
ABCA13 3410
N
-
H
A
G
A
G
R
F
R
F
L
G
S
I
L
V
N
L
S
S
C
V
A
L
N
R
F
Q
A
L
Q
S
V
D
I
L
E
T
K
A
H
E
L
L
Q
Q
N
-
-
S
F
L
A
S
I
I
F
-
-
-
S
N
S
L
F
D
K
N
F
R
S
E
S
V
K
L
P
P
H
3483