Mutations at homologous positions to ABCC7 p.Glu217
Alignment: ABCC_full, Alignment of full length ABCC proteins, 2016-02-18 11:19:27Mutations exactly at the same position:
|
SNAP2 PROVEAN Effect_dbs |
||
|---|---|---|
| ABCC7 |
p.Glu217Arg
p.Glu217Gly
p.Glu217Ser
p.Glu217Val
p.Glu217Phe
p.Glu217Cys
|
D
N
?
N
N
D
N
N
?
D
D
?
D
D
?
D
D
?
|
| ABCC8 |
p.Tyr454Cys
|
N
N
?
|
Mutations +/- 5 a.a. around the position:
| ABCC7 |
p.Met212Ala
p.Gly213Ala
p.Gly213Glu
p.Leu214Cys
p.Trp216*
p.Trp216Cys
p.Leu218*
p.Gln220Lys
p.Gln220*
p.Gln220Ala
p.Gln220Arg
p.Gln220Asn
p.Gln220Gly
p.Gln220Glu
p.Gln220Trp
p.Ala221Asp
p.Ser222Ala
p.Ser222Glu
p.Ser222Gly
p.Ser222Asp
|
N
D
?
D
N
?
D
N
?
D
D
?
-
-
D
D
-
-
D
N
D
-
-
D
N
N
D
D
N
N
N
D
N
N
D
N
N
D
D
N
D
D
N
?
N
N
?
D
D
?
D
D
?
D
D
?
|
| ABCC1 |
p.Trp459Ala
p.Pro464Ala
|
D
D
?
N
D
?
|
| ABCC2 |
p.Gly460Ala
p.Gly460Trp
|
D
D
?
D
D
?
|
| ABCC3 |
p.Pro450Arg
|
D
D
?
|
| ABCC8 |
p.Leu451Pro
p.Val458Ala
p.Ser459Arg
p.Ser459Phe
|
D
D
?
N
N
?
D
D
?
D
D
?
|
The alignment around the queried position:
ABCC7 178
L
V
L
S
L
A
V
I
L
L
L
M
M
Y
A
G
I
S
257
ABCC1 421
E
I
V
N
L
M
S
V
A
Q
F
M
L
A
T
N
I
S
A
L
Q
V
I
L
L
Y
L
L
L
N
L
G
S
V
L
A
G
V
A
V
M
V
L
M
V
N
A
K
Q
V
M
K
D
500
ABCC2 418
E
V
N
L
M
S
V
D
A
Q
L
M
D
V
T
N
F
M
M
W
S
S
V
L
Q
V
L
S
I
F
F
L
W
R
E
L
P
S
V
L
A
G
V
G
V
M
L
V
I
P
I
N
A
I
S
T
S
K
I
Q
V
K
N
M
K
N
D
K
497
ABCC3 407
G
E
I
V
N
L
M
S
V
D
A
Q
R
F
M
D
L
A
P
F
L
N
L
L
W
S
A
P
L
Q
I
I
L
A
I
Y
F
L
W
Q
N
L
G
S
V
L
A
G
V
A
F
M
V
L
L
I
P
L
N
G
A
V
A
V
K
M
R
A
F
Q
V
K
Q
M
K
L
K
D
S
486
ABCC4 192
G
Q
I
V
N
L
L
S
N
D
V
N
K
F
D
Q
V
T
V
F
L
H
F
L
W
A
G
P
L
Q
A
I
A
V
T
A
L
L
W
M
E
I
G
I
S
C
L
A
G
M
A
V
L
I
I
L
L
P
L
Q
S
C
F
G
K
L
F
S
S
L
S
K
T
A
T
F
T
D
A
271
ABCC5 274
G
E
L
I
N
I
C
S
N
D
G
Q
R
M
F
E
A
A
A
V
G
S
L
L
A
G
G
P
V
V
A
I
L
G
M
I
Y
N
V
I
I
L
G
P
T
G
F
L
G
S
A
V
F
I
L
F
Y
P
A
M
M
A
R
T
A
Y
R
R
K
C
V
A
A
T
D
E
353
ABCC6 407
G
D
V
V
L
V
S
D
Q
L
T
S
V
L
Y
L
G
L
W
L
P
L
V
W
I
V
F
V
Y
L
W
Q
L
L
G
P
S
A
L
T
I
A
V
F
L
S
L
P
L
F
F
I
S
K
K
R
N
H
Q
E
E
Q
M
R
Q
K
D
S
486
ABCC8 415
G
Q
I
N
L
V
A
I
D
T
Q
L
F
F
F
L
P
N
W
A
M
V
I
I
V
G
V
I
L
Y
I
L
G
A
L
G
A
A
V
I
I
L
L
A
P
V
Y
F
V
T
K
L
S
Q
A
S
T
L
Y
S
N
E
494
ABCC9 411
G
Q
I
N
N
L
V
A
I
E
T
N
Q
L
M
W
F
L
F
L
C
N
L
W
A
M
P
V
Q
I
I
M
G
V
I
L
L
Y
N
L
L
G
S
S
A
L
V
G
A
A
V
I
V
L
L
A
P
I
Q
Y
F
I
A
T
K
L
E
A
Q
K
S
T
L
D
Y
S
T
E
490
ABCC10 378
G
E
A
L
N
L
L
G
T
D
S
E
R
L
L
N
F
A
G
S
F
H
E
A
W
G
L
P
L
Q
L
A
I
T
L
Y
L
L
Y
Q
Q
V
G
V
A
F
V
G
G
L
I
L
A
L
L
L
V
P
V
N
K
V
I
A
T
R
I
M
A
S
N
Q
E
M
L
Q
H
K
D
A
457
ABCC11 258
G
E
A
I
S
F
F
T
G
D
V
N
Y
L
F
E
G
V
C
Y
G
P
L
V
L
I
T
C
A
S
L
V
I
C
S
I
S
S
Y
F
I
I
G
Y
T
A
F
I
A
I
L
C
Y
L
L
V
F
P
L
A
V
F
M
T
R
M
A
V
K
A
Q
H
H
T
S
E
V
S
D
Q
337
ABCC12 218
G
E
V
L
N
I
L
S
S
D
S
Y
S
L
F
E
A
A
L
F
C
P
L
P
A
T
I
P
I
L
M
V
F
C
A
A
Y
A
F
F
I
L
G
P
T
A
L
I
G
I
S
V
Y
V
I
F
I
P
V
Q
M
F
M
A
K
L
N
S
A
F
R
R
S
A
I
L
V
T
D
K
297