Mutations at homologous positions to ABCC7 p.Glu193
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.Glu193Lys
p.Glu193Cys
p.Glu193*
|
N
N
D
D
D
-
-
D
|
| ABCC1 |
p.Asp436Lys
|
D
D
?
|
| ABCC6 |
p.Glu422Lys
|
D
D
?
|
| ABCC8 |
p.Trp430*
|
-
-
?
|
Mutations +/- 5 a.a. around the position:
| ABCC7 |
p.Leu188Pro
p.Asn189Lys
p.Lys190Cys
p.Lys190Glu
p.Phe191Leu
p.Asp192Gly
p.Asp192Asn
p.Asp192Cys
p.Gly194Val
p.Gly194Arg
p.Gly194Thr
p.Leu197Cys
p.Ala198Pro
p.Ala198Cys
|
D
D
?
D
N
D
D
?
D
N
?
N
N
?
D
N
D
N
D
D
?
D
N
D
N
?
D
N
?
D
N
?
D
D
D
N
D
|
| ABCC1 |
p.Arg433Ser
p.Tyr440Phe
p.Tyr440Gln
p.Tyr440Ser
p.Tyr440Trp
p.Tyr440Glu
p.Tyr440Ala
p.Ile441Leu
|
D
D
?
N
N
?
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
N
N
?
|
| ABCC2 |
p.Lys430Arg
|
N
N
?
|
| ABCC6 |
p.Val417Ile
p.Val417Met
p.Arg419Gln
|
D
N
?
D
N
?
N
D
?
|
| ABCC8 |
p.Asn426Ser
p.Met429*
p.Cys435Arg
|
N
N
?
-
-
?
D
D
?
|
The alignment around the queried position:
ABCC7 156
I
K
K
S
S
D
-
-
K
S
L
V
L
S
L
A
V
I
L
233
ABCC1 399
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
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
476
ABCC2 396
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
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
473
ABCC3 385
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
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
462
ABCC4 170
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
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
247
ABCC5 254
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
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
329
ABCC6 385
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
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
462
ABCC8 391
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
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
470
ABCC9 387
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
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
466
ABCC10 359
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
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
433
ABCC11 238
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
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
313
ABCC12 198
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
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
273