Mutations at homologous positions to ABCC6 p.Arg382
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.Arg382Trp
|
D
D
D
|
| ABCC1 |
p.Lys396Glu
p.Lys396Ile
|
D
N
?
D
D
?
|
| ABCC2 |
p.Arg393Trp
|
D
D
?
|
| ABCC7 |
p.Arg153Ile
p.Arg153Cys
|
D
D
?
D
D
?
|
| ABCC8 |
p.Arg388Cys
|
D
D
?
|
Mutations +/- 5 a.a. around the position:
| ABCC6 |
p.Gln378*
|
-
-
D
|
| ABCC1 |
p.Gly392Arg
p.Gly392Ala
p.Gly392Asn
p.Arg394Asp
p.Arg394Ile
p.Ile400Thr
|
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
N
D
?
|
| ABCC11 |
p.Ala236Gly
|
N
N
?
|
| ABCC2 |
p.Gly389Cys
|
D
D
?
|
| ABCC4 |
p.Cys171Gly
p.His172Gln
|
D
D
?
N
D
?
|
| ABCC7 |
p.Ile148Thr
p.Ile148Asn
p.Gly149Arg
p.Gly149*
p.Gly149Trp
p.Met150Lys
p.Met150Val
p.Gln151*
p.Gln151Lys
p.Met152Val
p.Met152Arg
p.Met156Val
p.Met156Asn
p.Phe157Cys
p.Ser158Asn
p.Ser158Thr
|
D
N
N
D
D
D
D
-
-
?
D
D
?
D
D
?
N
D
?
-
-
?
N
N
N
N
D
D
N
N
?
D
D
?
N
N
?
N
N
?
N
N
|
| ABCC8 |
p.Ala390Glu
|
D
D
?
|
| ABCC9 |
p.Gly380Cys
|
D
D
?
|
The alignment around the queried position:
ABCC6 343
K
P
P
A
W
K
G
Y
L
L
A
V
M
F
L
S
A
C
L
L
F
E
Q
Q
M
Y
R
L
K
V
L
M
R
L
S
A
I
T
G
L
V
Y
V
L
A
L
S
G
S
R
-
-
K
A
S
A
V
G
D
V
V
L
V
S
D
Q
L
420
ABCC1 357
K
A
Q
G
Y
F
Y
T
V
L
F
V
T
A
L
Q
T
L
V
L
H
Q
Y
F
H
I
F
V
S
M
I
T
A
V
G
A
V
Y
R
K
A
L
V
I
T
N
S
A
R
-
-
K
S
S
T
V
E
I
V
N
L
M
S
V
A
Q
F
434
ABCC2 354
D
T
Y
L
W
I
G
Y
L
A
I
L
L
T
A
A
L
I
Q
S
F
C
L
Q
C
Y
F
Q
L
C
F
K
L
V
K
V
T
A
I
M
A
S
V
K
K
L
T
L
S
N
L
A
-
-
K
E
Y
T
E
V
N
L
M
S
V
D
A
Q
L
431
ABCC3 343
M
A
P
W
W
G
F
L
V
A
G
L
M
F
L
C
S
M
M
Q
S
L
I
L
Q
H
Y
Y
H
Y
I
F
V
T
G
V
K
F
R
T
G
I
M
G
V
I
Y
R
K
A
L
V
I
T
N
S
V
K
-
-
R
S
T
V
G
E
I
V
N
L
M
S
V
D
A
Q
R
F
420
ABCC4 128
S
V
A
L
N
T
Y
A
Y
A
T
V
L
T
F
C
T
L
I
L
A
I
L
H
H
L
Y
F
Y
H
Q
C
A
G
M
R
L
R
V
A
M
I
Y
R
K
A
L
R
L
S
N
A
M
-
-
K
T
T
T
G
Q
I
V
N
L
L
S
N
D
V
N
K
F
205
ABCC5 212
E
S
N
L
Q
Y
S
L
L
L
V
L
G
L
L
L
T
E
I
V
R
S
W
S
L
A
L
T
W
A
L
N
Y
R
T
G
V
R
L
R
G
A
I
L
T
M
A
F
K
K
I
L
K
L
K
N
I
K
E
-
-
-
-
K
S
L
G
E
L
I
N
I
C
S
N
D
G
Q
R
M
287
ABCC7 114
I
I
L
G
L
L
L
F
V
T
I
F
G
L
H
H
I
A
I
K
K
S
S
D
-
-
K
S
L
V
L
S
191
ABCC8 349
Q
E
F
L
A
N
V
L
A
V
L
L
F
L
L
L
Q
T
F
L
Q
A
S
Y
Y
V
A
I
T
G
I
N
L
G
I
Q
T
K
I
Y
N
K
I
M
L
S
T
L
M
G
E
M
T
A
G
Q
I
N
L
V
A
I
D
T
Q
L
428
ABCC9 345
K
E
F
L
E
N
A
Y
V
L
A
V
L
L
F
L
A
L
I
L
Q
R
T
F
L
Q
A
S
Y
Y
V
T
I
E
T
I
N
L
R
G
A
L
L
A
M
I
Y
N
K
I
L
R
L
S
T
S
N
L
S
M
G
E
M
T
L
G
Q
I
N
N
L
V
A
I
E
T
N
Q
L
424
ABCC10 317
Q
E
P
L
S
G
L
L
Y
A
L
G
L
A
G
G
A
V
L
G
A
V
L
Q
N
Q
Y
G
Y
E
V
Y
K
V
T
L
Q
A
R
G
A
V
L
N
I
L
Y
C
K
A
L
Q
L
G
P
S
-
-
-
-
-
R
P
P
T
G
E
A
L
N
L
L
G
T
D
S
E
R
L
391
ABCC11 196
L
G
N
V
V
H
G
V
G
L
C
F
A
L
F
L
S
E
C
V
K
S
L
S
F
S
S
S
W
I
I
N
Q
R
T
A
I
R
F
R
A
V
S
S
F
A
F
E
K
L
I
Q
F
K
S
V
I
H
-
-
-
-
I
T
S
G
E
A
I
S
F
F
T
G
D
V
N
Y
L
271
ABCC12 156
S
G
K
V
W
V
G
I
G
L
C
I
A
L
F
A
T
E
F
T
K
V
F
F
W
A
L
A
W
A
I
N
Y
R
T
A
I
R
L
K
V
A
L
S
T
L
V
F
E
N
L
V
S
F
K
T
L
T
H
-
-
-
-
I
S
V
G
E
V
L
N
I
L
S
S
D
S
Y
S
L
231