Mutations at homologous positions to ABCA3 p.Leu326
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.Leu326Arg
p.Leu326Pro
|
D
D
?
D
D
D
|
Mutations +/- 5 a.a. around the position:
ABCA10 |
p.Pro203Ser
|
D
N
?
|
ABCA12 |
p.Gly1136Asp
p.Gly1136Asn
|
D
D
?
D
D
?
|
ABCA4 |
p.Thr716Met
|
D
N
|
ABCA8 |
p.Val287Ile
|
N
N
?
|
The alignment around the queried position:
ABCA3 287
E
R
L
K
Y
M
M
M
G
L
S
S
W
H
W
S
A
F
L
L
F
F
L
F
L
L
I
A
S
F
M
T
L
F
C
V
K
V
K
P
N
V
A
V
L
S
R
D
P
S
L
V
L
A
F
L
L
C
A
I
S
T
I
S
F
S
F
M
V
S
T
366
ABCA1 664
E
R
L
K
E
T
R
I
M
G
L
D
N
S
I
L
W
F
S
W
F
I
S
S
L
L
L
V
S
A
G
L
L
V
V
I
L
K
L
G
-
-
-
-
-
N
L
L
P
Y
S
D
P
S
V
V
F
V
F
L
S
V
F
A
V
V
T
I
L
Q
F
L
I
S
T
738
ABCA2 731
E
H
R
L
K
E
V
M
K
T
M
G
L
N
N
A
V
H
W
V
A
W
F
I
T
G
F
V
Q
L
S
I
S
V
T
A
L
T
A
I
L
K
Y
G
-
-
-
-
-
Q
V
L
M
H
S
H
V
V
I
I
W
L
F
L
A
V
Y
A
V
A
T
I
M
F
C
F
L
V
S
V
805
ABCA4 679
E
L
L
K
E
T
K
N
Q
V
S
N
A
V
I
T
F
L
D
S
F
S
I
M
S
M
S
I
F
L
L
I
F
I
M
H
G
-
-
-
-
-
R
I
H
Y
S
D
P
F
I
L
F
L
F
L
L
A
F
S
T
A
T
I
M
L
F
L
L
S
T
753
ABCA5 246
K
K
I
K
E
F
L
K
I
M
G
L
H
D
T
A
F
W
L
S
W
V
L
L
Y
T
S
L
I
F
L
M
S
L
L
M
A
V
I
A
T
A
S
-
-
-
-
-
L
L
F
P
Q
S
S
S
I
V
I
F
L
L
F
F
L
Y
G
L
S
S
V
F
F
A
L
M
L
T
P
L
320
ABCA6 247
K
K
S
K
N
L
M
K
M
M
G
L
Q
D
S
A
F
W
L
S
W
G
L
I
Y
A
G
F
I
F
I
I
S
I
F
V
T
I
I
I
T
F
T
-
-
-
-
-
Q
I
I
V
M
T
G
F
M
V
I
F
I
L
F
F
L
Y
G
L
S
L
V
A
L
V
F
L
M
S
V
L
321
ABCA7 574
T
R
L
R
D
T
M
R
A
M
G
L
S
R
V
L
W
L
G
W
F
L
C
L
G
P
F
L
L
S
A
A
L
L
V
L
V
L
K
L
G
-
-
-
-
-
D
I
L
P
Y
S
H
P
G
V
V
F
L
F
L
A
A
F
A
V
A
T
V
T
Q
S
F
L
L
S
A
648
ABCA8 249
K
R
M
K
A
L
M
T
M
M
G
L
R
D
S
A
F
W
L
S
W
G
L
L
Y
A
G
F
I
F
I
M
A
L
F
L
A
L
I
R
S
T
-
-
-
-
-
Q
F
I
I
L
S
G
F
M
V
V
F
S
L
F
L
L
Y
G
L
S
L
V
A
L
A
F
L
M
S
I
L
323
ABCA9 250
Q
Y
I
T
S
L
M
T
M
M
G
L
R
E
S
A
F
W
L
S
W
G
L
M
Y
A
G
F
I
L
I
M
A
T
L
M
A
L
I
V
K
S
A
-
-
-
-
-
Q
I
V
V
L
T
G
F
V
M
V
F
T
L
F
L
L
Y
G
L
S
L
I
T
L
A
F
L
M
S
V
L
324
ABCA10 160
G
K
F
K
K
L
M
T
V
M
G
L
R
E
S
A
F
W
L
S
W
G
L
T
Y
I
C
F
I
F
I
M
S
I
F
M
A
L
V
I
T
S
I
-
-
-
-
-
I
V
F
H
T
G
F
M
V
I
F
T
L
Y
S
L
Y
G
L
S
L
I
A
L
A
F
L
M
S
V
L
234
ABCA12 1093
D
L
R
L
H
E
Y
K
M
M
G
V
N
S
C
S
H
F
F
A
W
L
I
E
S
V
G
F
L
L
V
T
I
V
I
L
I
I
I
L
K
F
-
-
-
-
-
N
I
L
P
K
T
N
G
F
I
L
F
L
Y
F
S
D
Y
S
F
S
V
I
A
M
S
Y
L
I
S
V
1167
ABCA13 3596
E
I
Q
I
E
E
Y
M
M
M
G
V
P
V
I
H
F
L
A
W
F
L
E
N
M
A
V
L
T
I
S
S
A
T
L
A
I
V
L
K
T
S
-
-
-
-
-
G
I
F
A
H
S
N
T
F
I
V
F
L
F
L
L
D
F
G
M
S
V
V
M
L
S
Y
L
L
S
A
3670