Mutations at homologous positions to ABCC6 p.Glu521
Alignment: ABCC_full, Alignment of full length ABCC proteins, 2016-02-18 11:19:27Mutations exactly at the same position:
|
SNAP2 PROVEAN Effect_dbs |
||
|---|---|---|
| ABCC6 |
p.Glu521Asp
|
D
D
D
|
| ABCC1 |
p.Glu535Asp
p.Glu535Ala
|
D
D
?
D
D
?
|
| ABCC7 |
p.Glu292Lys
p.Glu292*
|
D
D
-
-
?
|
Mutations +/- 5 a.a. around the position:
| ABCC6 |
p.Arg518Gln
p.Arg518*
|
D
D
D
-
-
D
|
| ABCC1 |
p.Arg532Ala
p.Lys540Glu
|
D
D
?
D
D
?
|
| ABCC3 |
p.Arg518*
p.Arg518Gln
|
-
-
?
D
D
?
|
| ABCC4 |
p.Lys304Asn
|
N
N
?
|
| ABCC7 |
p.Asn287Tyr
p.Asn287Lys
p.Gln290*
p.Lys294Cys
p.Leu295Gln
p.Arg297Gln
p.Arg297Trp
p.Arg297Cys
|
N
N
N
N
-
-
N
D
?
N
N
?
D
N
N
D
D
D
D
?
|
| ABCC8 |
p.Arg526Cys
p.Ser532Gly
p.Leu533Pro
|
D
D
?
N
N
?
D
D
?
|
| ABCC9 |
p.Ser528Ala
|
N
N
?
|
The alignment around the queried position:
ABCC6 482
R
Q
K
D
S
A
R
L
T
S
S
I
R
S
K
I
F
H
G
W
G
A
F
L
D
R
L
G
I
G
Q
L
G
A
L
R
T
S
G
L
L
F
S
V
L
V
S
F
Q
V
S
T
F
L
V
A
L
V
V
F
A
V
H
T
L
V
A
E
N
-
561
ABCC1 496
K
D
I
L
M
I
L
N
I
V
L
L
Y
A
W
L
A
F
K
D
K
V
L
A
I
Q
E
L
K
V
L
K
S
A
Y
L
S
A
V
G
F
V
F
L
V
A
L
A
V
V
I
N
N
575
ABCC2 493
K
N
D
K
R
L
K
I
M
N
E
I
L
S
G
I
K
I
L
K
Y
F
W
E
P
S
F
R
D
Q
V
Q
N
L
R
K
K
E
L
K
N
L
L
A
F
S
Q
L
Q
C
V
V
I
F
V
F
Q
L
T
P
V
L
V
S
V
V
T
S
V
Y
V
L
V
D
S
N
N
572
ABCC3 482
K
L
K
D
S
R
I
K
L
M
S
E
I
L
N
G
I
K
V
L
K
L
Y
A
W
E
P
S
F
L
K
V
E
G
I
Q
G
E
L
Q
L
L
R
A
Y
L
H
T
T
T
T
F
T
W
M
C
S
P
F
L
V
T
I
L
W
V
Y
V
Y
V
D
P
N
N
561
ABCC4 267
T
F
T
D
A
R
I
R
T
M
N
E
V
I
T
G
I
R
I
I
K
M
Y
A
W
E
S
F
S
N
L
I
T
N
L
R
K
E
I
S
K
I
L
R
S
S
C
L
R
G
M
N
L
A
S
F
F
S
A
S
K
I
I
V
F
V
T
F
T
T
Y
V
L
L
G
S
V
-
346
ABCC5 349
A
A
T
D
E
R
V
Q
K
M
N
E
V
L
T
Y
I
K
F
I
K
M
Y
A
W
V
K
A
F
S
Q
S
V
Q
K
I
R
E
E
E
R
R
I
L
E
K
A
G
Y
F
Q
S
I
T
V
G
V
A
P
I
V
V
V
I
A
S
V
V
T
F
S
V
H
M
T
L
G
F
D
-
428
ABCC7 253
G
I
S
L
V
I
T
I
I
Q
S
V
K
E
A
E
K
E
L
R
T
L
T
A
N
S
S
-
332
ABCC8 490
Y
S
N
E
L
K
Q
T
N
M
I
K
L
L
K
A
W
E
N
I
F
R
T
V
E
T
T
R
K
E
M
T
R
A
A
I
Y
T
S
I
S
I
F
M
N
T
A
I
I
A
V
L
I
T
F
H
V
S
F
A
569
ABCC9 486
D
Y
S
T
E
R
L
K
K
T
N
E
I
L
K
G
I
K
L
L
K
L
Y
A
W
E
H
I
F
C
K
S
V
E
E
T
R
M
K
E
L
S
L
K
T
F
A
L
Y
T
S
L
S
I
F
M
N
A
A
I
P
I
A
A
V
L
A
T
F
V
T
H
A
-
Y
A
S
G
N
564
ABCC10 453
Q
H
K
D
A
R
K
L
V
T
E
L
L
S
G
I
R
V
I
K
F
C
G
W
E
Q
A
L
G
A
R
V
E
A
C
R
A
R
E
L
G
R
L
R
V
I
K
Y
L
D
A
A
C
V
Y
L
W
A
A
L
P
V
V
I
S
I
V
I
F
I
T
Y
V
L
M
G
H
Q
-
532
ABCC11 333
E
V
S
D
Q
R
I
R
V
T
S
E
V
L
T
C
I
K
L
I
K
M
Y
T
W
E
K
P
F
A
K
I
I
E
D
L
R
R
K
E
R
K
L
L
E
K
C
G
L
V
Q
S
L
T
S
I
T
L
F
I
I
P
T
V
A
T
A
V
W
V
L
I
H
T
S
L
K
L
K
-
412
ABCC12 293
L
V
T
D
K
R
V
Q
T
M
N
E
F
L
C
I
R
L
I
K
M
Y
A
W
E
K
S
F
T
N
T
I
Q
D
I
R
R
R
E
R
K
L
L
E
K
A
G
F
V
Q
S
G
N
S
A
L
A
P
I
V
S
T
I
A
I
V
L
T
L
S
C
H
I
L
L
R
R
K
-
372