Mutations at homologous positions to ABCA4 p.Ile478
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.Ile478Thr
|
N
D
?
|
Mutations +/- 5 a.a. around the position:
ABCA1 |
p.Thr459Pro
p.Ala465Val
|
N
D
?
N
N
?
|
ABCA3 |
p.Asp123Asn
p.Asn124Gln
p.Asn124Ser
p.Val129Met
|
D
N
N
N
N
?
N
N
?
D
N
?
|
The alignment around the queried position:
ABCA4 440
Y
F
F
D
-
N
Q
N
M
I
R
D
T
L
G
N
P
T
V
K
D
F
L
N
R
Q
L
G
E
G
I
T
A
E
A
L
N
F
L
Y
K
G
P
R
E
S
Q
A
D
D
M
A
N
F
W
R
D
I
F
N
I
R
T
L
V
N
Q
Y
L
E
518
ABCA1 425
T
F
M
E
-
N
S
Q
E
M
D
L
V
R
M
L
D
S
R
D
N
D
H
F
E
Q
Q
L
D
L
D
W
A
Q
D
I
V
F
L
A
K
H
P
E
D
V
Q
S
S
N
G
S
V
T
W
R
E
A
F
N
E
T
N
Q
I
R
T
I
S
R
F
M
E
503
ABCA2 501
S
F
L
E
-
Q
G
R
L
Q
Q
H
L
R
W
L
Q
Q
Y
V
A
E
L
R
L
H
P
E
A
L
N
-
-
-
L
S
L
D
E
L
P
P
A
L
R
Q
D
-
-
-
-
N
F
S
L
P
S
G
M
A
L
L
Q
Q
L
D
T
I
D
N
A
A
C
G
W
I
Q
F
M
S
572
ABCA3 109
G
F
P
S
-
E
K
F
E
D
Y
I
R
Y
C
S
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
S
S
L
A
V
F
E
H
P
F
H
S
K
E
P
L
L
A
V
K
Y
H
L
154
ABCA5 46
L
I
L
I
S
-
M
M
H
P
N
K
K
Y
E
E
V
P
N
I
E
L
N
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
P
M
D
K
F
T
L
S
N
L
I
L
G
Y
T
P
V
T
N
I
T
S
S
I
M
Q
K
V
S
T
97
ABCA6 44
I
A
L
F
S
-
S
S
M
R
N
V
Q
F
P
G
M
A
P
Q
N
L
G
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
R
V
D
K
F
N
S
S
S
L
M
V
V
Y
T
P
I
S
N
L
T
Q
Q
I
M
N
K
T
A
L
95
ABCA7 337
T
F
M
N
-
D
S
S
N
V
A
M
L
Q
R
L
L
Q
M
Q
D
E
G
-
-
R
R
Q
P
R
P
G
G
R
D
H
M
E
A
L
R
S
F
L
D
-
-
-
-
-
-
P
G
S
G
G
-
-
Y
S
W
Q
D
A
H
A
D
V
G
L
V
G
T
G
R
V
T
E
405
ABCA8 44
L
Y
I
Y
P
-
H
S
H
Q
V
N
D
F
S
S
L
L
T
M
D
L
G
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
R
V
D
T
F
N
E
S
R
F
S
V
V
Y
T
P
V
T
N
T
T
Q
Q
I
M
N
K
V
A
S
95
ABCA9 44
L
Y
L
F
F
S
N
L
H
Q
V
H
D
T
P
Q
M
S
S
M
D
L
G
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
R
V
D
S
F
N
D
T
N
Y
V
I
A
F
A
P
E
S
K
T
T
Q
E
I
M
N
K
V
A
S
96
ABCA10 1
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
M
N
K
M
A
L
6
ABCA12 851
N
S
F
H
L
L
N
Q
A
I
P
M
L
Q
N
T
L
R
N
P
F
V
Q
V
F
V
K
F
S
V
G
L
D
A
V
E
L
L
K
Q
I
D
E
L
D
-
-
-
-
-
-
-
I
L
R
L
K
L
E
N
N
I
D
I
I
D
Q
L
N
T
L
S
S
L
T
V
N
I
S
S
923
ABCA13 3360
R
S
G
-
-
S
G
Q
M
F
N
Q
L
Q
E
A
L
R
N
K
F
V
R
N
F
V
E
N
Q
L
H
I
D
V
D
K
L
T
E
K
L
Q
T
Y
G
-
-
-
-
-
-
-
G
L
L
D
E
M
F
N
-
H
A
G
A
G
R
F
R
F
L
G
S
I
L
V
N
L
S
S
3429