Mutations at homologous positions to ABCC6 p.Glu242
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.Glu242*
|
-
-
D
|
Mutations +/- 5 a.a. around the position:
| ABCC6 |
p.Ser245Thr
|
N
D
?
|
| ABCC1 |
p.Trp242Cys
p.Asp248Trp
p.Thr249Glu
p.Thr249Ala
p.Ser250Ala
|
D
D
?
D
D
?
N
N
?
N
N
?
N
N
?
|
| ABCC2 |
p.Met233Ile
|
N
N
?
|
| ABCC3 |
p.Arg248Gln
|
N
N
?
|
| ABCC4 |
p.Ser46Asn
|
N
N
?
|
| ABCC5 |
p.Asp143Arg
|
D
D
?
|
| ABCC7 |
p.Tyr38Ala
p.Gln39*
p.Ser42Phe
p.Asp44Val
p.Asp44Gly
p.Ala46Asp
p.Asp47Ala
|
D
D
?
-
-
D
D
D
D
D
D
?
D
D
D
N
N
D
?
|
| ABCC8 |
p.Gly251Asp
p.Gly251Val
p.Pro254Leu
p.Ala259Glu
p.Ala259Cys
|
N
D
?
N
D
?
N
D
?
D
D
?
N
N
?
|
The alignment around the queried position:
ABCC6 204
P
E
T
A
A
F
P
S
K
A
T
F
W
V
S
G
L
V
W
R
R
R
P
L
R
-
P
K
D
L
W
S
L
G
R
N
S
E
E
V
S
R
E
K
E
W
M
R
N
R
S
A
A
R
-
-
-
-
-
-
-
-
-
H
N
K
A
I
A
F
K
273
ABCC1 209
E
S
S
A
S
F
L
S
R
I
T
F
I
T
G
L
I
V
G
Y
R
Q
L
E
-
G
S
D
L
S
L
N
K
E
E
Q
V
V
V
L
V
K
N
K
K
E
A
T
R
Q
V
K
-
-
V
V
Y
S
S
K
P
A
Q
P
285
ABCC2 194
P
S
S
I
A
S
F
L
S
S
I
T
Y
S
Y
D
S
I
I
L
K
G
Y
K
R
P
L
T
-
L
E
D
V
W
E
V
D
E
E
K
T
K
T
L
V
S
K
F
E
T
H
K
R
E
L
Q
K
A
R
R
A
L
Q
R
R
Q
E
K
S
S
Q
Q
N
S
G
A
R
272
ABCC3 208
P
E
T
S
A
G
F
L
S
R
L
F
F
W
W
F
T
K
M
A
I
Y
G
Y
R
H
P
L
E
-
E
K
D
L
W
S
L
K
E
E
D
S
Q
M
V
V
Q
Q
L
L
E
A
W
R
K
Q
E
K
Q
T
A
R
-
-
-
-
-
-
-
-
-
-
H
K
A
S
A
A
P
276
ABCC4 16
-
-
-
-
A
N
C
S
R
V
F
F
W
W
L
N
P
L
F
K
I
G
K
R
R
L
E
-
E
D
D
M
Y
V
L
P
E
D
R
S
Q
H
L
G
E
E
L
Q
G
F
D
K
E
V
L
R
A
E
N
D
A
Q
K
-
-
-
-
-
-
-
-
-
-
-
-
-
78
ABCC5 104
-
-
-
-
A
G
L
F
S
C
M
T
F
S
W
L
S
S
L
A
R
V
A
H
K
K
G
E
L
S
M
E
D
V
W
S
L
S
K
H
E
S
S
V
N
C
R
R
L
E
R
L
W
Q
E
E
L
N
E
V
G
P
D
A
A
S
-
-
-
-
-
-
-
-
-
-
-
-
-
167
ABCC7 11
-
-
-
-
-
-
V
F
F
S
T
R
P
I
R
K
Y
E
-
L
S
I
I
P
V
S
N
E
K
L
R
R
L
A
S
K
K
N
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
69
ABCC8 218
L
Q
P
N
L
S
K
N
A
F
I
K
T
A
H
K
P
I
D
-
L
A
I
K
L
I
A
M
R
L
T
N
Q
R
F
D
A
Q
V
R
K
D
I
T
Q
G
-
-
-
-
-
-
-
-
-
-
-
-
-
284
ABCC9 216
L
Q
P
F
V
N
L
L
S
K
A
T
Y
W
W
M
N
T
L
I
I
S
A
H
K
K
P
I
D
-
L
K
A
I
G
K
L
P
I
A
M
R
A
V
T
N
Y
V
C
L
K
D
A
Y
E
E
Q
K
K
K
V
A
D
H
P
N
R
-
-
-
-
-
-
-
-
-
-
-
-
-
282
ABCC10 214
A
E
D
G
E
S
W
L
S
R
F
S
Y
A
W
L
A
P
L
L
A
R
G
A
C
G
E
L
R
Q
P
Q
D
I
C
R
L
P
H
R
L
Q
P
T
Y
L
A
R
V
F
Q
A
H
W
Q
E
G
A
R
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
273
ABCC11 89
-
-
-
-
A
G
L
F
S
Y
T
V
S
W
L
T
P
L
M
I
Q
S
L
R
S
R
-
L
D
E
N
T
I
P
P
L
S
V
H
D
A
S
D
K
N
V
Q
R
L
H
R
L
W
E
E
E
V
S
R
R
G
I
E
K
A
S
-
-
-
-
-
-
-
-
-
-
-
-
-
151
ABCC12 49
-
-
-
-
A
G
L
L
S
F
A
T
F
S
W
L
T
P
V
M
V
K
G
Y
R
Q
R
-
L
T
V
D
T
L
P
P
L
S
T
Y
D
S
S
D
T
N
A
K
R
F
R
V
L
W
D
E
E
V
A
R
V
G
P
E
K
A
S
-
-
-
-
-
-
-
-
-
-
-
-
-
111