Mutations at homologous positions to ABCA4 p.Thr1979
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.Thr1979Ala
|
N
D
?
|
| ABCA3 |
p.Thr1423Ile
|
N
D
?
|
Mutations +/- 5 a.a. around the position:
| ABCA4 |
p.Gly1975Asp
p.Gly1975Arg
p.Gly1977Ser
p.Lys1978Met
p.Lys1978Ala
|
D
D
?
D
D
D
D
D
D
?
D
D
?
|
| ABCA1 |
p.Asn1948Ser
p.Ala1950Val
p.Lys1952Met
|
D
D
?
D
D
?
D
D
?
|
| ABCA3 |
p.Asn1418Ser
p.Asn1418Ile
p.Thr1424Met
p.Met1428Leu
|
N
D
?
D
D
?
N
D
?
N
N
?
|
| ABCA7 |
p.Lys1833Met
|
D
D
?
|
The alignment around the queried position:
5145ABCA4 1949
G
T
-
-
-
-
-
-
-
-
-
S
S
P
A
V
D
R
L
C
V
R
P
G
E
C
F
G
N
A
T
T
F
K
M
L
T
G
D
T
T
V
T
S
G
D
A
T
V
A
-
-
-
-
G
K
S
I
L
T
N
I
S
E
V
H
Q
N
M
G
2015
ABCA1 1923
R
K
-
-
-
-
-
-
-
-
-
K
P
A
V
D
R
I
C
V
G
I
P
P
G
E
F
G
L
L
G
V
G
G
S
S
T
F
K
M
L
T
G
D
T
T
V
T
R
G
D
A
F
L
N
-
-
-
-
N
S
I
L
S
N
I
H
E
V
H
Q
N
M
G
1989
ABCA2 2061
S
R
K
I
-
-
-
-
-
-
G
R
I
L
A
V
D
R
L
C
L
G
V
R
P
G
E
C
F
G
L
L
G
V
N
G
A
G
K
T
S
T
F
K
M
L
T
G
D
E
S
T
T
G
G
E
A
F
V
N
-
-
-
-
G
H
S
V
L
K
E
L
L
Q
V
Q
Q
S
L
G
2130
ABCA3 1392
Q
R
-
-
-
-
-
-
-
-
V
P
L
L
A
V
D
R
L
S
L
A
V
Q
K
G
E
C
F
G
L
L
G
F
G
A
G
K
T
F
K
L
T
G
E
E
S
L
T
S
G
D
A
F
V
G
-
-
-
-
G
H
R
I
S
S
D
V
G
K
V
R
Q
I
G
1459
ABCA5 1302
K
K
D
F
L
L
S
R
K
V
K
K
V
A
T
K
Y
I
S
F
C
V
K
K
G
E
I
L
G
L
L
G
P
N
G
A
G
K
S
T
I
I
N
I
L
V
G
D
I
E
P
T
S
G
Q
V
F
L
G
D
Y
-
-
S
S
E
T
S
E
-
D
D
D
S
L
K
C
M
G
Y
1378
ABCA6 1289
Q
K
K
S
C
F
S
K
R
K
K
K
I
A
A
R
N
I
S
F
C
V
Q
E
G
E
I
L
G
L
L
G
P
N
G
A
G
K
S
S
S
I
R
M
I
S
G
I
T
K
P
T
A
G
E
V
E
L
K
G
-
-
-
-
-
-
-
-
-
-
C
S
S
V
L
G
H
L
G
Y
1358
ABCA7 1804
G
Q
-
-
-
-
-
-
-
-
-
R
M
P
A
V
D
L
C
L
G
I
P
E
C
F
G
L
L
G
V
N
G
A
G
T
S
T
F
R
M
V
T
G
D
T
L
A
S
R
G
E
A
V
L
A
-
-
-
-
G
H
S
V
A
R
E
P
A
A
H
L
S
M
G
1870
ABCA8 1252
K
R
K
G
C
F
S
K
R
K
N
K
I
A
T
R
N
V
S
F
C
V
R
K
G
E
V
L
G
L
L
G
H
N
G
A
G
K
S
T
S
I
K
V
I
T
G
D
T
K
P
T
A
G
Q
V
L
L
K
G
S
-
-
G
-
-
-
-
-
-
G
G
D
A
L
E
F
L
G
Y
1323
ABCA9 1295
K
K
K
N
C
F
S
K
R
K
K
K
I
A
T
R
N
V
S
F
C
V
K
K
G
E
V
I
G
L
L
G
H
N
G
A
G
K
S
T
T
I
K
M
I
T
G
D
T
K
P
T
A
G
Q
V
I
L
K
G
S
-
-
G
-
-
-
-
-
-
G
G
E
P
L
G
F
L
G
Y
1366
ABCA10 1208
T
K
K
S
C
F
S
T
R
K
K
K
I
A
I
R
N
V
S
F
C
V
K
K
G
E
V
L
G
L
L
G
H
N
G
A
G
K
S
T
S
I
K
M
I
T
G
C
T
K
P
T
A
G
V
V
V
L
Q
G
S
-
-
R
A
S
V
R
Q
Q
H
D
N
S
L
K
F
L
G
Y
1285
ABCA12 2265
L
I
H
-
-
-
-
-
-
-
K
K
I
I
A
V
N
N
I
S
I
G
I
P
A
G
E
C
F
G
L
L
G
V
N
G
A
G
K
T
T
I
F
K
M
L
T
G
D
I
I
P
S
S
G
N
I
L
I
R
N
K
T
G
-
-
-
S
L
G
H
V
D
S
H
S
S
L
V
G
2334
ABCA13 4729
R
F
F
-
-
-
-
-
-
-
Q
N
I
I
A
V
Q
D
I
S
L
G
I
P
K
G
E
C
F
G
L
L
G
V
N
G
A
G
K
S
T
T
F
K
M
L
N
G
E
V
S
L
T
S
G
H
A
I
I
R
T
P
M
G
D
A
V
D
L
S
S
A
G
T
A
G
V
L
I
G
4801