Mutations at homologous positions to ABCA4 p.Cys698
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.Cys698Tyr
|
D
N
?
|
Mutations +/- 5 a.a. around the position:
ABCA4 |
p.Trp697*
p.Trp700*
|
-
-
-
-
|
ABCA3 |
p.Leu303Val
p.Trp308Arg
|
N
N
?
D
D
?
|
ABCA7 |
p.Ala589Gly
p.Ser598Asn
|
N
N
?
N
N
?
|
The alignment around the queried position:
ABCA4 659
V
L
A
I
Y
S
V
S
M
T
V
K
S
I
L
E
E
L
L
K
E
T
K
N
Q
V
S
N
A
V
I
T
F
L
D
S
F
S
I
M
S
M
S
I
F
L
L
I
F
I
M
H
G
-
-
-
-
-
R
I
H
Y
S
D
P
F
I
L
733
ABCA1 644
M
T
L
A
W
I
Y
S
V
A
V
I
I
K
G
V
Y
E
K
E
R
L
K
E
T
R
I
M
G
L
D
N
S
I
L
W
F
S
W
F
I
S
S
L
L
L
V
S
A
G
L
L
V
V
I
L
K
L
G
-
-
-
-
-
N
L
L
P
Y
S
D
P
S
V
V
718
ABCA2 711
M
V
I
S
W
V
Y
S
V
A
M
T
I
Q
H
I
V
A
E
K
E
H
R
L
K
E
V
M
K
T
M
G
L
N
N
A
V
H
W
V
A
W
F
I
T
G
F
V
Q
L
S
I
S
V
T
A
L
T
A
I
L
K
Y
G
-
-
-
-
-
Q
V
L
M
H
S
H
V
V
I
I
785
ABCA3 267
L
L
L
S
F
T
Y
T
A
L
T
I
A
A
V
V
Q
E
K
E
R
L
K
Y
M
M
M
G
L
S
S
W
H
W
S
A
F
L
L
F
F
L
F
L
L
I
A
S
F
M
T
L
F
C
V
K
V
K
P
N
V
A
V
L
S
R
D
P
S
L
V
346
ABCA5 226
V
I
A
F
S
P
F
G
Y
F
L
A
I
H
I
V
A
E
K
E
K
K
I
K
E
F
L
K
I
M
G
L
H
D
T
A
F
W
L
S
W
V
L
L
Y
T
S
L
I
F
L
M
S
L
L
M
A
V
I
A
T
A
S
-
-
-
-
-
L
L
F
P
Q
S
S
S
I
V
I
F
300
ABCA6 228
L
L
H
F
S
P
L
V
Y
F
I
S
L
N
V
T
K
E
R
-
K
K
S
K
N
L
M
K
M
M
G
L
Q
D
S
A
F
W
L
S
W
G
L
I
Y
A
G
F
I
F
I
I
S
I
F
V
T
I
I
I
T
F
T
-
-
-
-
-
Q
I
I
V
M
T
G
F
M
V
I
F
301
ABCA7 554
L
T
L
A
W
I
Y
S
V
T
L
T
V
K
A
V
V
R
E
K
T
R
L
R
D
T
M
R
A
M
G
L
S
R
V
L
W
L
G
W
F
L
C
L
G
P
F
L
L
S
A
A
L
L
V
L
V
L
K
L
G
-
-
-
-
-
D
I
L
P
Y
S
H
P
G
V
V
628
ABCA8 230
I
I
S
F
S
S
F
I
Y
Y
A
S
V
N
V
T
R
E
R
-
K
R
M
K
A
L
M
T
M
M
G
L
R
D
S
A
F
W
L
S
W
G
L
L
Y
A
G
F
I
F
I
M
A
L
F
L
A
L
I
R
S
T
-
-
-
-
-
Q
F
I
I
L
S
G
F
M
V
V
F
303
ABCA9 231
I
I
S
F
S
T
F
I
Y
Y
V
S
V
N
V
T
Q
E
R
-
Q
Y
I
T
S
L
M
T
M
M
G
L
R
E
S
A
F
W
L
S
W
G
L
M
Y
A
G
F
I
L
I
M
A
T
L
M
A
L
I
V
K
S
A
-
-
-
-
-
Q
I
V
V
L
T
G
F
V
M
V
F
304
ABCA10 141
L
V
S
F
S
S
F
I
Y
F
A
S
L
N
V
A
R
E
R
-
G
K
F
K
K
L
M
T
V
M
G
L
R
E
S
A
F
W
L
S
W
G
L
T
Y
I
C
F
I
F
I
M
S
I
F
M
A
L
V
I
T
S
I
-
-
-
-
-
I
V
F
H
T
G
F
M
V
I
F
214
ABCA12 1073
L
M
V
A
W
V
V
F
I
A
A
F
V
K
K
L
E
K
D
L
R
L
H
E
Y
K
M
M
G
V
N
S
C
S
H
F
F
A
W
L
I
E
S
V
G
F
L
L
V
T
I
V
I
L
I
I
I
L
K
F
-
-
-
-
-
N
I
L
P
K
T
N
G
F
I
L
1147
ABCA13 3576
M
M
L
T
W
M
V
S
V
A
S
M
V
R
K
L
V
Y
E
Q
E
I
Q
I
E
E
Y
M
M
M
G
V
P
V
I
H
F
L
A
W
F
L
E
N
M
A
V
L
T
I
S
S
A
T
L
A
I
V
L
K
T
S
-
-
-
-
-
G
I
F
A
H
S
N
T
F
I
V
3650