Mutations at homologous positions to ABCA4 p.Ser974
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.Ser974Pro
|
D
D
|
Mutations +/- 5 a.a. around the position:
| ABCA4 |
p.Lys969Met
p.Lys969Arg
p.Lys969Ala
p.Thr970Pro
p.Thr970Ala
p.Thr971Asn
p.Thr972Asn
p.Thr977Pro
p.Gly978Asp
|
D
D
?
N
D
?
D
D
?
D
D
?
N
D
?
D
D
D
D
N
D
?
D
D
|
| ABCA1 |
p.Lys939Met
p.Thr940Met
p.Gly948Arg
|
D
D
?
D
D
?
D
D
?
|
| ABCA3 |
p.Thr574Ile
p.Leu579Pro
|
N
D
?
D
D
?
|
| ABCA7 |
p.Lys847Met
|
D
D
?
|
The alignment around the queried position:
4018ABCA4 937
I
E
C
G
-
-
P
A
V
D
R
L
N
I
T
F
N
Q
I
A
F
L
H
A
G
L
I
L
L
L
S
G
T
V
L
G
R
-
-
D
I
E
T
S
L
D
A
V
R
S
L
G
M
C
P
Q
H
N
1012
ABCA1 907
V
Y
D
G
M
K
-
-
V
A
V
G
L
A
L
N
F
E
G
Q
I
F
L
G
H
G
G
T
T
M
S
I
L
T
L
F
P
P
T
S
G
T
A
I
L
G
K
-
-
D
I
S
E
S
T
I
R
Q
N
L
G
C
P
Q
H
N
982
ABCA2 998
V
Y
K
D
D
K
K
-
-
L
A
L
N
K
L
S
L
N
L
Y
E
N
Q
V
V
S
F
L
G
H
N
G
A
G
K
T
T
T
M
S
I
L
T
G
L
F
P
P
T
S
G
S
A
T
I
Y
G
H
-
-
D
I
R
T
E
M
D
E
I
R
K
N
L
G
M
C
P
Q
H
N
1073
ABCA3 538
V
F
R
V
G
N
K
D
R
A
A
V
R
D
L
N
L
L
Y
E
G
Q
T
V
L
L
G
H
G
K
T
T
L
S
M
T
G
L
F
P
T
S
G
R
A
Y
I
S
Y
-
-
E
I
S
Q
D
M
V
Q
I
K
S
L
G
L
C
P
Q
H
D
615
ABCA5 487
Y
R
K
K
G
E
N
V
E
A
L
R
N
L
S
F
D
I
Y
E
G
Q
I
T
A
L
L
G
H
S
G
T
G
K
S
T
L
M
N
I
L
C
G
L
C
P
P
S
D
G
F
A
S
I
Y
G
H
R
V
S
E
I
D
E
M
F
E
A
R
K
M
I
G
I
C
P
Q
L
D
I
566
ABCA6 487
Y
K
G
K
S
G
K
V
E
A
L
K
G
L
L
F
D
I
Y
E
G
Q
I
T
A
I
L
G
H
S
G
A
G
K
S
S
L
L
N
I
L
N
G
L
S
V
P
T
E
G
S
V
T
I
Y
N
K
N
L
S
E
M
Q
D
L
E
E
I
R
K
I
T
G
V
C
P
Q
F
N
V
566
ABCA7 815
R
F
P
G
S
P
Q
-
-
P
A
L
R
G
L
S
L
D
F
Y
Q
G
H
I
T
A
F
L
G
H
N
G
G
T
T
T
L
S
I
L
S
G
L
F
P
P
S
G
G
S
A
F
I
L
G
H
-
-
D
V
R
S
S
M
A
I
R
P
H
L
V
C
P
Q
Y
N
890
ABCA8 489
Y
K
G
K
P
D
K
I
E
A
L
K
D
L
V
F
D
I
Y
E
G
Q
I
T
A
I
L
G
H
S
G
A
G
K
S
T
L
L
N
I
L
S
G
L
S
V
P
T
K
G
S
V
T
I
Y
N
N
K
L
S
E
M
A
D
L
E
N
L
S
K
L
T
G
V
C
P
Q
S
N
V
568
ABCA9 490
Y
A
G
K
C
E
R
V
E
A
L
K
G
V
V
F
D
I
Y
E
G
Q
I
T
A
L
L
G
H
S
G
A
G
K
T
T
L
L
N
I
L
S
G
L
S
V
P
T
S
G
S
V
T
V
Y
N
H
T
L
S
R
M
A
D
I
E
N
I
S
K
F
T
G
F
C
P
Q
S
N
V
569
ABCA10 400
Y
N
G
K
T
G
K
V
E
A
L
Q
G
I
F
F
D
I
Y
E
G
Q
I
T
A
I
L
G
H
N
G
A
G
K
S
T
L
L
N
I
L
S
G
L
S
V
S
T
E
G
S
A
T
I
Y
N
T
Q
L
S
E
I
T
D
M
E
E
I
R
K
N
I
G
F
C
P
Q
F
N
F
479
ABCA12 1354
I
Y
G
-
-
-
-
S
K
V
A
V
D
N
L
N
L
N
F
Y
E
G
H
I
T
S
L
L
G
P
A
G
K
T
T
T
I
S
M
L
T
G
L
F
G
A
S
A
G
T
I
F
V
Y
G
K
-
-
D
I
K
T
D
L
H
T
V
R
K
N
M
G
V
C
M
Q
H
D
1427
ABCA13 3850
E
Y
E
G
-
-
-
H
K
A
V
V
Q
D
L
S
L
T
F
Y
R
D
Q
I
T
A
L
L
G
T
N
G
A
G
K
T
T
I
I
S
M
L
T
G
L
H
P
P
T
S
G
T
I
I
I
N
G
K
-
-
N
L
Q
T
D
L
S
R
V
R
M
E
L
G
V
C
P
Q
Q
D
3924