Mutations at homologous positions to ABCC8 p.Asp854
Alignment: ABCC_full, Alignment of full length ABCC proteins, 2016-02-18 11:19:27Mutations exactly at the same position:
|
SNAP2 PROVEAN Effect_dbs |
||
|---|---|---|
| ABCC8 |
p.Asp854Asn
p.Asp854Glu
|
D
D
?
D
D
?
|
| ABCC1 |
p.Asp793Leu
p.Asp793Glu
p.Asp793Asn
p.Asp793Gln
p.Asp793Ser
|
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
|
| ABCC2 |
p.Asp786Glu
|
D
D
?
|
| ABCC7 |
p.Leu571Ser
p.Leu571Asp
|
D
D
D
D
?
|
Mutations +/- 5 a.a. around the position:
| ABCC8 |
p.Asp853Asn
|
D
D
?
|
| ABCC1 |
p.Asp792Leu
p.Asp792Ala
p.Asp792Glu
p.Asp792Asn
p.Asp792Ser
p.Pro794Ala
p.Pro794Asp
|
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
|
| ABCC2 |
p.Ser789Phe
p.Ser789Cys
|
D
D
?
D
D
?
|
| ABCC4 |
p.Tyr556Cys
p.Leu557Pro
|
D
D
?
D
D
?
|
| ABCC6 |
p.Asp777Asn
p.Ala781Val
|
D
D
D
D
D
D
|
| ABCC7 |
p.Ala566Thr
p.Ala566Asp
p.Ala566Pro
p.Asp567Ala
p.Leu568Phe
p.Leu568*
p.Tyr569Asp
p.Tyr569Cys
p.Tyr569*
p.Tyr569His
p.Leu570Asp
p.Asp572Asn
p.Asp572Met
p.Asp572Ala
p.Ser573Glu
p.Ser573Cys
p.Ser573Ala
p.Pro574His
p.Pro574Ser
p.Pro574Ala
p.Phe575Tyr
p.Phe575Thr
p.Gly576Ala
p.Gly576*
p.Gly576Arg
|
N
D
D
D
?
D
D
?
N
D
?
D
N
-
-
D
D
D
D
-
-
N
D
D
D
?
D
D
D
D
?
D
D
?
N
N
?
D
D
?
N
N
?
D
D
D
D
D
D
D
?
D
N
?
N
D
?
D
N
-
-
D
N
?
|
The alignment around the queried position:
1007ABCC8 815
H
G
Q
T
Q
I
G
E
G
I
N
L
G
G
Q
Q
I
S
V
A
A
L
Y
Q
H
A
N
V
V
F
L
P
F
S
A
L
I
H
L
S
D
H
L
M
Q
A
G
I
L
E
L
L
R
D
D
R
T
V
V
L
V
T
L
Q
Y
L
P
894
ABCC1 754
P
S
D
R
T
E
I
G
E
K
G
V
N
S
G
Q
K
Q
R
V
S
L
A
R
A
Y
S
N
A
D
I
Y
L
F
L
S
A
V
D
A
H
V
G
K
H
I
F
E
N
V
I
G
P
K
G
M
L
K
N
K
T
R
I
L
V
T
S
M
S
Y
L
P
833
ABCC2 747
P
G
G
D
L
A
E
I
G
E
G
I
N
L
S
G
G
Q
K
Q
I
S
L
A
R
A
T
Y
Q
N
L
D
I
Y
L
L
D
P
L
A
V
A
H
V
G
K
H
I
F
K
V
L
G
P
N
L
L
K
G
K
T
R
L
L
V
T
H
S
M
H
F
L
P
826
ABCC3 737
P
G
G
D
Q
E
I
G
E
K
G
I
N
L
S
G
G
Q
R
Q
R
V
S
L
A
R
A
Y
S
D
A
I
F
L
L
D
D
P
L
S
A
V
D
S
H
V
A
K
H
I
F
D
H
V
I
G
P
E
G
L
A
G
K
T
R
V
L
V
H
G
I
S
F
L
P
816
ABCC4 521
E
D
G
D
L
T
V
I
G
D
G
T
T
L
S
G
Q
K
A
R
V
N
L
A
R
V
Y
Q
D
A
D
I
L
D
D
P
L
S
A
V
D
A
E
V
S
R
H
L
F
L
C
I
C
Q
I
-
-
L
H
E
K
I
I
L
V
T
H
Q
L
Q
Y
L
K
598
ABCC5 671
P
S
S
D
L
T
E
I
G
E
R
G
A
N
L
S
G
G
Q
R
Q
R
I
S
L
A
R
A
L
Y
S
D
R
S
I
Y
I
L
D
D
P
L
S
A
L
D
A
H
V
G
N
H
I
F
N
S
A
I
R
K
H
-
-
L
K
S
K
T
V
L
F
V
T
H
Q
L
Q
Y
L
V
748
ABCC6 739
P
E
G
H
T
S
I
G
E
G
N
L
S
G
Q
K
Q
L
S
L
A
V
K
A
A
V
Y
L
L
D
P
L
A
L
D
A
H
G
Q
H
V
F
Q
V
I
G
P
G
G
L
L
Q
G
T
T
I
L
H
A
L
H
I
L
P
818
ABCC7 532
E
N
V
G
I
S
L
V
V
L
A
N
T
K
M
K
611
ABCC9 798
P
F
G
D
Q
T
E
I
G
E
R
G
I
N
L
S
G
G
Q
R
Q
R
I
C
V
A
R
A
L
Y
Q
N
T
N
I
V
F
L
D
D
P
F
S
A
L
D
I
H
L
S
D
H
L
M
Q
E
G
I
L
K
F
L
Q
D
D
K
R
T
L
V
L
V
T
H
K
L
Q
Y
L
T
877
ABCC10 712
P
A
G
D
Q
T
E
V
G
E
K
G
V
T
L
S
G
G
Q
R
A
R
I
A
L
A
R
A
V
Y
Q
E
K
E
L
Y
L
L
D
D
P
L
A
A
V
D
A
D
V
A
N
H
L
L
H
R
C
I
L
G
M
L
S
Y
T
T
R
-
-
L
L
C
T
H
R
T
E
Y
L
E
789
ABCC11 620
P
F
G
D
M
T
E
I
G
E
R
G
L
N
L
S
G
G
Q
K
Q
R
I
S
L
A
R
A
V
Y
S
D
R
Q
I
Y
L
L
D
D
P
L
S
A
V
D
A
H
V
G
K
H
I
F
E
E
C
I
K
K
T
-
-
L
R
G
K
T
V
V
L
V
T
H
Q
L
Q
Y
L
E
697
ABCC12 589
P
Y
G
D
L
T
E
I
G
E
R
G
L
N
L
S
G
G
Q
R
Q
R
I
S
L
A
R
A
V
Y
S
D
R
Q
L
Y
L
L
D
D
P
L
S
A
V
D
A
H
V
G
K
H
V
F
E
E
C
I
K
K
T
-
-
L
R
G
K
T
V
V
L
V
T
H
Q
L
Q
F
L
E
666