Mutations at homologous positions to ABCA13 p.Arg4843
Alignment: ABCA_full, Alignment of full length ABCA proteins, 2016-02-18 11:17:15Mutations exactly at the same position:
|
SNAP2 PROVEAN Effect_dbs |
||
|---|---|---|
| ABCA13 |
p.Arg4843Cys
p.Arg4843Leu
|
N
!
?
D
!
?
|
| ABCA1 |
p.Lys2031Cys
p.Lys2031Arg
|
D
D
?
N
N
?
|
Mutations +/- 5 a.a. around the position:
| ABCA13 |
p.Ile4841Val
|
N
!
?
|
| ABCA1 |
p.Ala2028Val
|
N
D
?
|
| ABCA4 |
p.Lys2056*
p.Leu2058Arg
p.Gly2059Ala
p.Leu2060Arg
|
-
-
D
D
?
N
D
?
D
D
|
The alignment around the queried position:
5227ABCA13 4804
P
Q
Q
D
A
L
D
E
L
L
T
G
W
E
H
L
Y
Y
Y
C
S
L
R
G
I
P
R
Q
C
I
P
E
V
A
G
D
L
R
L
H
L
E
A
H
A
D
K
P
V
A
T
Y
S
G
G
T
K
R
K
L
S
T
A
L
A
L
V
G
K
P
D
I
L
L
L
D
E
P
4883
ABCA1 1992
P
Q
F
D
A
I
T
E
L
L
T
G
E
H
V
E
F
A
L
L
R
G
V
P
E
K
E
V
G
K
V
G
E
W
I
R
L
G
L
V
K
Y
G
E
K
A
G
N
G
G
N
K
R
K
L
T
A
M
A
L
I
G
G
P
P
V
V
F
L
D
E
P
2071
ABCA2 2133
P
Q
D
A
L
F
D
E
L
T
A
R
E
H
L
Q
L
Y
T
R
L
R
G
I
S
W
K
D
E
A
R
V
V
K
W
A
L
E
K
L
E
L
T
K
Y
A
D
K
P
A
G
T
Y
S
G
G
N
K
R
K
L
S
T
A
I
A
L
I
G
Y
P
A
F
I
F
L
D
E
P
2212
ABCA3 1462
P
Q
F
L
L
D
H
M
T
G
E
M
L
V
M
Y
A
L
R
G
I
P
E
R
H
I
G
A
C
E
N
T
L
R
G
L
L
L
E
P
H
A
N
K
L
V
R
T
G
G
N
K
K
L
S
T
G
I
A
L
I
G
E
P
A
V
I
F
L
D
E
P
1541
ABCA4 2018
P
Q
F
D
A
I
D
E
L
T
G
E
Y
Y
A
L
G
V
P
A
E
E
E
K
A
N
W
S
I
S
T
V
Y
A
D
C
L
A
G
G
N
K
K
L
S
T
A
I
A
L
I
G
C
P
P
L
V
L
L
P
2097
ABCA5 1381
Q
I
N
P
L
W
P
D
T
T
L
Q
E
H
F
E
I
Y
G
A
V
K
G
M
S
A
S
D
M
K
E
V
I
S
R
I
T
H
A
L
D
L
K
E
H
L
Q
K
T
V
K
K
L
P
A
G
I
K
R
K
L
C
F
A
L
S
M
L
G
N
P
Q
I
T
L
L
D
E
P
S
1460
ABCA6 1361
Q
E
N
V
L
W
P
M
L
T
L
R
E
H
L
E
V
Y
A
A
V
K
G
L
R
K
A
D
A
R
L
A
I
A
R
L
V
S
A
F
K
L
H
E
Q
L
N
V
P
V
Q
K
L
T
A
G
I
T
R
K
L
C
F
V
L
S
L
L
G
N
S
P
V
L
L
L
D
E
P
S
1440
ABCA7 1873
P
Q
S
D
A
I
F
E
L
L
G
R
E
H
L
E
L
L
A
R
L
R
G
V
P
E
A
Q
V
A
Q
T
A
G
S
G
L
A
R
L
G
L
S
W
Y
A
D
R
P
A
G
T
Y
S
G
G
N
K
R
K
L
A
T
A
L
A
L
V
G
D
P
A
V
V
F
L
D
E
1952
ABCA8 1326
Q
E
N
A
L
W
P
N
L
T
V
R
Q
H
L
E
V
Y
A
A
V
K
G
L
R
K
G
D
A
E
V
A
I
T
R
L
V
D
A
L
K
L
Q
D
Q
L
K
S
P
V
K
T
L
S
E
G
I
K
R
K
L
C
F
V
L
S
I
L
G
N
P
S
V
V
L
L
D
E
P
S
1405
ABCA9 1369
Q
E
N
A
L
W
P
N
L
T
V
R
Q
H
L
E
V
Y
A
A
V
K
G
L
R
K
G
D
A
M
I
A
I
T
R
L
V
D
A
L
K
L
Q
D
Q
L
K
A
P
V
K
T
L
S
E
G
I
K
R
K
L
C
F
V
L
S
I
L
G
N
P
S
V
V
L
L
D
E
P
S
1448
ABCA10 1288
Q
E
N
S
L
W
P
K
L
T
M
K
E
H
L
E
L
Y
A
A
V
K
G
L
G
K
E
D
A
A
L
S
I
S
R
L
V
E
A
L
K
L
Q
E
Q
L
K
A
P
V
K
T
L
S
E
G
I
K
R
K
L
C
F
V
L
S
I
L
G
N
P
S
V
V
L
L
D
E
P
F
1367
ABCA12 2337
P
Q
E
D
A
L
D
D
L
V
T
V
E
E
H
L
Y
F
Y
A
R
V
H
G
I
P
E
K
D
I
K
E
T
V
H
K
L
L
R
R
L
H
L
M
P
F
K
D
R
A
T
S
M
C
S
Y
G
T
K
R
K
L
S
T
A
L
A
L
I
G
K
P
S
I
L
L
L
D
E
P
2416