Mutations at homologous positions to ABCC7 p.Leu346
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.Leu346Pro
p.Leu346Cys
p.Leu346Ala
p.Leu346Glu
p.Leu346Arg
|
D
D
D
D
?
D
D
?
D
D
?
D
D
?
|
Mutations +/- 5 a.a. around the position:
| ABCC7 |
p.Ser341Ala
p.Ser341Thr
p.Ser341Glu
p.Ser341Cys
p.Ser341Lys
p.Ser341Arg
p.Ser341Pro
p.Phe342Trp
p.Phe342Cys
p.Phe342Ala
p.Cys343Ser
p.Cys343Val
p.Cys343Leu
p.Cys343Thr
p.Cys343Ala
p.Ile344Ala
p.Ile344Cys
p.Ile344Lys
p.Ile344His
p.Ile344Arg
p.Val345Cys
p.Val345Ala
p.Val345Lys
p.Val345His
p.Val345Arg
p.Arg347Pro
p.Arg347Cys
p.Arg347His
p.Arg347Glu
p.Arg347Asp
p.Arg347Lys
p.Arg347Leu
p.Arg347Trp
p.Arg347Ile
p.Arg347Ala
p.Arg347Gln
p.Met348Lys
p.Met348Cys
p.Met348Val
p.Met348Thr
p.Met348Ala
p.Met348Arg
p.Met348Asn
p.Met348Ile
p.Met348Glu
p.Ala349Val
p.Ala349Cys
p.Ala349Ser
p.Ala349Lys
p.Val350Cys
p.Val350Ala
p.Val350Arg
p.Thr351Ala
p.Thr351Cys
p.Thr351Ser
p.Thr351Arg
|
D
N
D
D
N
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
D
N
?
D
D
?
D
D
?
N
N
?
D
N
?
D
N
?
N
N
?
N
N
?
N
N
?
N
N
?
N
N
?
D
N
?
N
N
?
D
D
?
N
N
?
D
D
?
D
D
?
D
D
?
D
N
D
D
D
D
N
D
D
N
?
D
D
?
D
N
?
D
N
D
D
D
?
D
D
?
D
N
?
D
N
?
D
D
D
D
?
N
N
?
D
D
?
D
D
?
D
D
?
D
D
?
N
N
?
D
D
?
N
N
D
D
N
?
N
N
?
D
N
?
D
N
?
D
N
?
D
D
?
D
N
?
D
N
?
D
N
D
N
?
|
| ABCC1 |
p.Ala587Val
p.Asn590Ala
p.Asn590Gln
p.Asn590Asp
p.Arg593Leu
p.Arg593Glu
p.Arg593Lys
p.Phe594Ala
p.Phe594Trp
p.Phe594Tyr
p.Pro595Ala
p.Asn597Ala
|
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
D
N
?
D
D
?
D
D
?
N
N
?
D
D
?
D
D
?
|
| ABCC2 |
p.Arg590Ala
|
D
D
?
|
| ABCC4 |
p.Thr356Met
p.Thr364Arg
|
N
N
?
D
D
?
|
| ABCC8 |
p.Leu582Val
p.Val587Gly
p.Phe591Leu
|
N
N
?
N
D
?
N
D
?
|
The alignment around the queried position:
ABCC7 310
S
-
-
-
D
G
A
I
I
D
Q
K
K
T
E
Y
N
386
ABCC1 553
V
F
L
V
A
L
A
V
V
I
N
N
I
L
A
A
F
V
L
L
F
I
L
L
I
L
-
M
V
I
I
V
Q
A
S
V
S
L
K
R
L
R
I
F
L
S
H
E
E
L
E
P
D
S
I
631
ABCC2 550
F
Q
L
T
P
V
L
V
S
V
V
T
S
V
Y
V
L
V
D
S
N
N
I
L
D
A
Q
A
F
T
S
I
T
L
F
N
I
L
F
P
L
S
M
L
P
-
M
M
I
S
S
M
L
Q
A
V
S
T
E
R
L
E
K
Y
L
G
G
D
D
L
D
T
S
A
I
R
628
ABCC3 539
W
M
C
S
P
F
L
V
T
I
L
W
V
Y
V
Y
V
D
P
N
N
V
L
D
A
E
K
A
F
V
S
V
S
L
F
N
I
L
R
L
P
L
N
M
L
P
-
Q
L
I
S
N
L
T
Q
A
S
V
S
L
K
R
I
Q
Q
F
L
Q
E
E
L
D
P
Q
S
V
E
617
ABCC4 324
F
F
S
A
S
K
I
I
V
F
V
T
F
T
T
Y
V
L
L
G
S
V
-
-
I
T
A
S
R
V
F
V
A
V
L
Y
G
A
V
R
L
V
T
L
F
P
S
A
I
V
S
A
I
V
S
I
R
R
I
Q
T
F
L
L
L
D
E
I
S
Q
R
N
R
Q
401
ABCC5 406
A
P
I
V
V
V
I
A
S
V
V
T
F
S
V
H
M
T
L
G
F
D
-
-
L
T
A
A
Q
A
F
T
V
V
T
V
F
N
S
M
T
F
A
L
K
V
T
P
-
F
S
V
K
S
L
S
E
A
S
V
A
V
D
R
F
K
S
L
F
L
M
E
E
V
H
M
I
K
N
K
482
ABCC6 539
F
Q
V
S
T
F
L
V
A
L
V
V
F
A
V
H
T
L
V
A
E
N
-
A
N
A
E
K
A
V
T
L
T
V
L
N
I
L
N
K
A
Q
A
F
L
P
-
F
I
H
S
L
V
Q
A
R
V
S
F
D
L
V
T
F
L
C
L
E
E
V
D
P
G
V
D
616
ABCC8 547
N
T
A
I
I
A
V
L
I
T
F
H
V
S
F
A
D
F
S
P
V
A
F
A
S
S
F
H
I
L
T
P
L
L
L
S
-
S
V
V
S
T
K
A
L
V
S
Q
K
L
S
E
F
L
S
S
A
E
I
E
E
Q
C
A
625
ABCC9 543
N
A
A
I
P
I
A
A
V
L
A
T
F
V
T
H
A
-
Y
A
S
G
N
N
L
K
P
A
E
A
F
A
S
L
S
L
F
H
I
L
V
T
P
L
F
L
L
S
-
T
V
V
R
A
V
K
A
I
I
S
V
Q
K
L
N
E
F
L
L
S
D
E
I
G
D
D
S
W
R
620
ABCC10 510
W
A
A
L
P
V
V
I
S
I
V
I
F
I
T
Y
V
L
M
G
H
Q
-
-
L
T
A
T
K
V
F
T
A
L
A
L
V
R
M
L
I
L
P
L
N
N
F
P
-
W
V
I
N
G
L
L
E
A
K
V
S
L
D
R
I
Q
L
F
L
D
L
P
N
H
N
P
Q
A
Y
Y
586
ABCC11 390
L
F
I
I
P
T
V
A
T
A
V
W
V
L
I
H
T
S
L
K
L
K
-
-
L
T
A
S
M
A
F
S
M
L
A
S
L
N
L
L
R
L
S
V
F
F
V
P
-
I
A
V
K
G
L
T
N
S
K
S
A
V
M
R
F
K
K
F
F
L
Q
E
S
P
V
F
Y
V
Q
T
466
ABCC12 350
A
P
I
V
S
T
I
A
I
V
L
T
L
S
C
H
I
L
L
R
R
K
-
-
L
T
A
P
V
A
F
S
V
I
A
M
F
N
V
M
K
F
S
I
A
I
L
P
-
F
S
I
K
A
M
A
E
A
N
V
S
L
R
R
M
K
K
I
L
I
D
K
S
P
P
S
Y
I
T
Q
426