Mutations at homologous positions to ABCA3 p.Ala132
Alignment: ABCA_full, Alignment of full length ABCA proteins, 2016-02-18 11:17:15Mutations exactly at the same position:
SNAP2 PROVEAN Effect_dbs |
||
---|---|---|
ABCA3 |
p.Ala132Thr
|
N
D
?
|
Mutations +/- 5 a.a. around the position:
ABCA3 |
p.Val129Met
p.Val133Met
|
D
N
?
D
N
?
|
ABCA1 |
p.Tyr482Cys
|
D
D
?
|
ABCA4 |
p.Asp498Asn
|
D
N
|
The alignment around the queried position:
ABCA3 126
S
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
S
S
L
A
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
-
-
-
-
169
ABCA1 442
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
V
N
L
N
K
L
E
P
I
A
T
E
V
W
L
I
N
521
ABCA2 518
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
K
V
S
V
D
I
F
K
G
F
H
D
E
E
S
I
V
N
590
ABCA4 457
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
C
L
V
L
K
S
Y
D
E
T
Q
L
T
Q
536
ABCA5 63
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
D
H
L
P
D
V
I
I
T
E
E
Y
T
N
E
K
E
M
115
ABCA6 61
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
A
P
L
L
K
G
T
S
V
I
G
A
P
N
K
T
H
M
113
ABCA7 354
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
C
L
S
L
D
K
L
E
A
A
P
S
E
A
A
L
V
S
423
ABCA8 61
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
T
P
F
L
A
G
K
E
V
L
G
L
P
D
E
E
S
I
113
ABCA9 62
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
A
P
F
L
K
G
R
T
I
M
G
W
P
D
E
K
S
M
114
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
24
ABCA12 869
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
C
V
L
Y
D
R
I
Q
A
A
K
T
I
D
E
M
E
R
941
ABCA13 3376
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
C
V
A
L
N
R
F
Q
A
L
Q
S
V
D
I
L
E
T
3447