Mutations at homologous positions to ABCA4 p.Gly606
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.Gly606Ala
p.Gly606Asp
|
D
D
?
D
D
?
|
Mutations +/- 5 a.a. around the position:
| ABCA4 |
p.Arg602Trp
p.Arg602Gln
p.Arg602Thr
p.Ile604Ser
p.Trp605Ser
p.Gly607Arg
p.Gly607Trp
p.Phe608Leu
p.Phe608Ile
|
D
D
D
D
N
D
?
D
D
D
D
?
D
D
D
D
D
D
D
D
?
|
| ABCA1 |
p.Arg587Trp
p.Arg587Lys
p.Trp590Ser
p.Trp590Leu
p.Phe593Leu
p.Ala594Thr
|
D
D
?
D
N
?
D
D
D
D
D
?
D
D
?
N
N
?
|
| ABCA3 |
p.Gly205Arg
p.Arg208Trp
p.Arg208Val
p.Gly210Val
p.Leu212Met
|
D
D
D
D
?
D
D
?
D
D
?
N
N
?
|
The alignment around the queried position:
ABCA4 567
K
Y
K
I
M
D
I
V
V
E
K
T
I
K
Y
W
D
S
G
P
R
A
D
V
E
F
Y
A
Y
L
Q
D
M
Q
I
T
R
S
V
Q
A
A
P
-
-
-
-
-
V
G
I
Y
L
M
P
P
641
ABCA1 552
V
K
Y
K
I
M
D
I
D
N
V
E
R
T
N
K
I
K
G
Y
W
P
G
P
A
D
P
F
E
D
M
Y
V
G
G
Y
L
D
V
V
E
Q
A
I
I
R
V
L
T
G
T
E
K
K
-
-
-
-
-
T
V
Y
M
Q
Q
M
P
Y
P
626
ABCA2 621
V
H
Y
K
I
R
Q
N
S
S
F
T
E
K
T
N
E
I
R
R
A
Y
W
R
P
G
P
N
T
G
-
-
G
R
F
Y
F
L
Y
G
-
F
V
W
I
Q
D
M
M
E
R
A
I
I
D
T
F
V
G
H
D
V
V
E
-
-
-
-
P
G
S
Y
V
Q
M
F
P
Y
P
C
693
ABCA3 181
T
T
S
L
F
L
F
P
N
P
G
-
-
-
-
-
-
-
-
-
-
-
P
T
P
D
G
E
P
Y
I
E
F
A
V
H
A
V
D
R
A
I
M
E
Y
H
A
D
A
A
T
R
Q
L
F
Q
R
L
T
V
T
I
K
R
Y
P
249
ABCA5 140
R
F
F
P
-
D
M
I
P
V
S
S
I
Y
M
D
S
R
A
G
C
S
K
S
-
-
-
-
-
C
E
A
A
Q
Y
W
S
S
G
-
F
T
V
L
Q
A
S
I
D
A
A
I
I
Q
L
K
T
N
V
S
L
W
K
-
-
-
-
E
L
E
S
T
K
A
V
I
M
G
E
T
208
ABCA6 138
I
F
F
Q
G
Y
N
S
P
L
W
K
E
D
-
-
F
S
A
H
C
W
D
G
Y
G
E
F
S
C
T
L
T
K
Y
W
N
R
G
-
F
V
A
L
Q
T
A
I
N
T
A
I
I
E
I
T
T
N
H
P
V
M
E
-
-
-
-
E
L
M
S
V
T
A
I
T
M
K
T
L
210
ABCA7 462
I
K
I
R
M
D
I
D
V
V
T
T
N
K
I
R
D
R
F
W
D
G
P
A
A
D
P
L
T
D
L
R
Y
V
W
G
G
F
V
Y
L
Q
D
L
V
E
A
A
V
R
V
L
S
G
A
N
P
-
-
-
-
-
A
G
L
Y
L
Q
Q
M
P
Y
P
C
536
ABCA8 138
K
F
L
L
G
H
G
M
P
A
K
K
E
H
K
D
H
T
A
H
C
Y
E
T
N
E
D
V
Y
C
E
V
S
V
F
W
K
E
G
-
F
V
A
L
Q
A
A
I
N
A
A
I
I
E
I
T
T
N
H
S
V
M
E
-
-
-
-
E
L
M
S
V
T
G
K
N
M
K
M
H
212
ABCA9 139
K
F
S
W
G
H
R
I
P
M
M
K
E
H
R
D
H
S
A
H
C
Q
A
V
N
E
K
M
K
C
E
G
S
E
F
W
E
K
G
-
F
V
A
F
Q
A
A
I
N
A
A
I
I
E
I
A
T
N
H
S
V
M
E
-
-
-
-
Q
L
M
S
V
T
G
V
H
M
K
I
L
213
ABCA10 49
K
F
N
W
G
Y
R
I
P
V
I
K
E
H
S
E
Y
T
E
H
C
W
A
M
H
G
E
I
F
C
Y
L
A
K
Y
W
L
K
G
-
F
V
A
F
Q
A
A
I
N
A
A
I
I
E
V
T
T
N
H
S
V
M
E
-
-
-
-
E
L
T
S
V
I
G
I
N
M
K
I
P
123
ABCA12 981
I
K
Y
T
I
M
S
L
K
T
A
Q
T
T
R
S
L
R
T
K
I
W
A
P
G
P
H
N
S
P
S
H
N
Q
I
Y
G
R
A
-
F
I
Y
L
Q
D
S
I
E
R
A
I
I
E
L
Q
T
G
R
N
S
Q
E
-
-
-
-
I
A
V
Q
V
Q
A
I
P
Y
P
C
1055
ABCA13 3484
V
S
Y
T
I
R
T
N
V
L
Y
S
V
R
T
D
V
V
K
N
P
S
W
K
F
H
P
Q
N
L
P
A
D
G
F
K
Y
N
Y
V
-
F
A
P
L
Q
D
M
I
E
R
A
I
I
L
V
Q
T
G
Q
E
A
L
E
-
-
-
-
P
A
A
Q
T
Q
A
A
P
Y
P
C
3558