Mutations at homologous positions to ABCA3 p.Ala1119
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.Ala1119Glu
|
N
N
?
|
Mutations +/- 5 a.a. around the position:
| ABCA3 |
p.Thr1114Met
p.Thr1114Ser
p.Thr1114Ala
p.Ser1116Phe
p.Ile1117Met
|
N
D
?
N
N
?
N
N
?
D
D
?
N
N
?
|
| ABCA1 |
p.Val1674Ile
p.Arg1680Gln
p.Arg1680Trp
|
N
N
?
D
D
D
D
D
D
|
| ABCA4 |
p.Ser1696Asn
p.Ser1696Arg
p.Gln1703Lys
p.Arg1705Gln
p.Arg1705Trp
p.Arg1705Leu
|
D
D
N
D
?
D
N
?
N
D
?
D
D
?
D
D
|
| ABCA7 |
p.Arg1561Gln
|
N
D
?
|
The alignment around the queried position:
ABCA3 1080
P
S
A
L
Q
A
K
D
Q
F
N
E
G
R
K
G
F
D
I
A
L
N
L
L
F
A
M
A
F
L
A
S
F
L
V
S
E
R
A
V
Q
A
K
H
V
Q
F
V
S
G
V
H
V
A
S
F
L
S
A
L
L
D
L
I
S
F
L
I
P
S
L
L
1159
ABCA1 1637
N
L
T
K
Q
Q
L
S
E
V
A
M
T
T
S
V
D
V
L
V
S
I
V
I
F
A
M
S
F
V
P
S
F
V
F
L
I
Q
E
V
S
K
A
K
H
L
Q
F
I
S
G
V
K
P
V
I
Y
L
S
N
F
W
M
C
N
Y
V
V
P
A
T
L
1716
ABCA2 1775
N
K
T
S
A
S
L
S
L
D
Y
L
L
Q
G
-
T
D
V
V
I
A
I
F
I
I
V
A
M
S
F
V
P
A
S
F
V
V
F
L
V
A
E
K
S
T
K
A
K
H
L
Q
F
V
S
G
C
N
P
I
I
Y
W
L
A
N
Y
V
W
D
M
L
N
Y
L
V
P
A
T
C
1853
ABCA4 1662
N
L
K
E
Q
L
S
E
I
T
V
L
T
S
V
D
A
V
V
A
I
C
I
F
M
S
F
P
F
V
L
Y
L
I
E
V
N
K
S
K
H
L
F
I
S
G
V
S
P
T
T
V
N
F
W
D
I
N
Y
V
S
A
G
L
1741
ABCA5 1005
S
T
P
F
F
Q
E
I
T
D
I
V
F
K
I
E
L
Y
F
Q
A
A
L
L
G
I
I
V
T
A
M
P
P
Y
F
A
M
E
N
A
E
N
H
K
I
K
A
Y
T
Q
L
K
L
S
G
L
L
P
S
A
Y
W
I
G
Q
A
V
V
D
I
P
L
F
F
I
I
L
I
L
M
1084
ABCA6 999
S
S
P
F
P
L
S
-
-
H
I
G
L
W
T
G
L
P
D
G
S
F
F
L
F
L
V
L
C
S
I
S
P
Y
I
T
M
G
S
I
S
D
Y
K
K
N
A
K
S
Q
L
W
I
S
G
L
Y
T
S
A
Y
W
C
G
Q
A
L
V
D
V
S
F
F
I
L
I
L
L
L
M
1076
ABCA7 1518
N
L
T
K
E
Q
L
S
E
A
L
M
A
S
S
V
D
V
L
V
S
I
C
V
V
F
A
M
S
F
V
P
A
S
F
T
L
V
L
I
E
E
V
T
R
A
K
H
L
Q
L
M
G
G
L
S
P
T
L
Y
W
L
G
N
F
L
W
D
M
C
N
Y
L
V
P
A
C
I
1597
ABCA8 967
R
S
T
F
L
E
N
-
-
G
Q
D
N
P
I
G
F
L
A
Y
I
M
F
W
L
V
L
T
S
S
C
P
P
Y
I
A
M
S
S
I
D
D
Y
K
N
R
A
R
S
Q
L
R
I
S
G
L
S
P
S
A
Y
W
F
G
Q
A
L
V
D
V
S
L
Y
F
L
V
F
V
F
I
1044
ABCA9 1008
R
S
T
F
F
E
E
-
-
H
M
D
Y
E
Y
G
Y
R
S
N
T
F
F
W
I
P
M
A
A
S
F
T
P
Y
I
A
M
S
S
I
G
D
Y
K
K
K
A
H
S
Q
L
R
I
S
G
L
Y
P
S
A
Y
W
F
G
Q
A
L
V
D
V
S
L
Y
F
L
I
L
L
L
M
1085
ABCA10 918
S
T
S
F
S
R
D
-
-
D
I
V
L
D
L
G
F
I
D
G
S
I
F
L
L
L
I
T
N
C
V
S
P
F
I
G
M
S
S
I
S
D
Y
K
K
N
V
Q
S
Q
L
W
I
S
G
L
W
P
S
A
Y
W
C
G
Q
A
L
V
D
I
P
L
Y
F
L
I
L
F
S
I
995
ABCA12 1971
P
-
-
G
V
Q
D
Q
E
Q
A
I
S
S
L
I
D
I
L
V
A
L
S
I
L
M
G
Y
S
V
T
T
A
S
F
V
T
Y
V
V
R
E
H
Q
T
K
A
K
Q
L
Q
H
I
S
G
I
G
V
T
C
Y
W
V
T
N
F
I
Y
D
M
V
F
Y
L
V
P
V
A
F
2048
ABCA13 4440
G
-
-
G
A
L
L
N
K
D
K
I
L
E
S
I
Q
C
G
V
A
L
C
I
V
G
F
S
I
L
S
A
S
I
G
S
S
V
V
R
D
R
V
I
G
A
K
R
L
Q
H
I
S
G
L
G
Y
R
M
Y
W
F
T
N
F
L
Y
D
M
L
F
Y
L
V
S
V
C
L
4517