Mutations at homologous positions to ABCB4 p.Ser346
Alignment: ABCB_halves, Alignment of ABC subunits from proteins in the ABCB subfamily, 2011-11-21 18:43:41Mutations exactly at the same position:
|
SNAP2 PROVEAN Effect_dbs |
||
|---|---|---|
| ABCB4 |
p.Ser346Ile
|
D
D
?
|
| ABCB1 |
p.Ser344Cys
p.Ser344Ala
p.Ala987Cys
|
N
N
?
D
N
?
D
D
?
|
Mutations +/- 5 a.a. around the position:
| ABCB4 |
p.Gly983Ser
|
N
D
?
|
| ABCB1 |
p.Leu339Cys
p.Leu339Val
p.Ile340Cys
p.Ile340Ala
p.Gly341Val
p.Gly341Cys
p.Gly341Ala
p.Ala342Cys
p.Phe343Cys
p.Phe343Arg
p.Phe343Tyr
p.Phe343Met
p.Phe343Ala
p.Val345Cys
p.Gly346Cys
p.Gln347Cys
p.Gln347Ala
p.Ala348Cys
p.Ser349Cys
p.Ser349Ala
p.Val982Cys
p.Val982Arg
p.Val982Ala
p.Phe983Ala
p.Phe983Cys
p.Gly984Cys
p.Ala985Cys
p.Ala985Thr
p.Met986Ala
p.Met986Val
p.Met986Cys
p.Met986Arg
p.Val988Ala
p.Val988Cys
p.Gly989Cys
p.Gln990Ala
p.Gln990Cys
p.Val991Ala
p.Val991Cys
p.Ser992Asn
p.Ser992Cys
p.Ser992Ala
|
N
D
?
N
N
?
N
D
?
D
D
?
D
D
?
D
D
?
N
D
?
D
D
?
D
D
?
D
D
?
N
N
?
N
D
?
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
N
D
?
D
N
?
N
N
?
D
D
?
D
D
?
N
D
?
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
N
N
?
D
D
?
D
D
?
N
D
?
D
D
?
D
D
?
D
D
?
D
D
?
N
N
?
N
N
?
D
N
?
D
D
?
D
N
?
|
| ABCB11 |
p.Gly374Ser
p.Thr1029Lys
p.Gly1032Arg
|
D
D
?
D
N
?
D
D
?
|
| ABCB2 |
p.Val518Ile
p.Val518Leu
|
N
N
?
N
N
?
|
| ABCB5 |
p.Lys521Leu
|
N
D
?
|
The alignment around the queried position:
ABCB4 308
I
Y
A
S
Y
A
L
A
F
W
Y
T
L
V
I
S
-
K
E
T
I
G
N
A
M
T
V
F
F
S
I
L
I
G
A
F
V
G
Q
A
A
C
I
D
A
A
N
A
R
G
A
Y
V
F
D
I
I
D
N
N
P
K
I
D
S
F
S
E
R
G
H
K
386
ABCB1 306
A
S
A
L
Y
G
L
V
S
-
Y
I
G
V
I
E
F
A
N
A
R
A
Y
E
I
F
K
I
N
K
S
I
D
S
Y
S
S
G
H
K
384
ABCB1 949
R
F
G
A
Y
L
V
A
H
-
K
L
M
S
F
E
D
V
V
A
D
Y
K
A
K
I
S
A
H
I
I
M
I
I
K
P
L
I
D
S
Y
S
T
E
G
L
M
1027
ABCB2 479
G
M
L
L
K
V
G
I
L
Y
I
G
G
Q
L
V
T
S
-
G
A
V
S
S
G
N
L
V
T
F
V
L
Y
Q
M
Q
F
T
Q
A
E
V
L
L
S
I
Y
P
R
V
Q
K
A
V
G
S
S
E
K
I
F
E
Y
L
D
R
T
P
R
C
P
P
S
G
-
-
L
L
T
555
ABCB3 384
H
L
G
V
Q
M
L
M
L
S
G
L
Q
Q
M
Q
D
-
G
E
L
T
Q
G
S
L
S
F
M
I
Y
Q
E
S
V
G
S
Y
V
Q
T
L
V
Y
I
Y
G
D
M
L
S
N
V
G
A
A
E
K
V
F
S
Y
M
D
R
Q
P
N
L
P
S
P
G
-
-
T
L
A
460
ABCB4 948
F
S
Y
C
F
F
G
A
Y
L
I
V
N
-
G
H
M
R
F
R
D
V
I
V
F
A
I
V
F
A
V
A
L
G
H
A
S
S
F
A
P
D
Y
A
K
A
K
L
S
A
A
H
L
F
M
L
F
E
R
Q
P
L
I
D
S
Y
S
E
E
L
K
1026
ABCB5 484
I
Y
F
A
Y
A
A
G
F
R
F
G
A
Y
L
I
Q
A
-
G
R
M
T
P
E
G
M
F
I
V
F
T
A
I
A
Y
G
A
A
I
G
E
T
L
V
L
A
P
E
Y
S
K
A
K
S
G
A
A
H
L
F
A
L
L
E
K
K
P
N
I
D
S
R
S
Q
E
G
K
562
ABCB6 505
I
G
L
G
L
L
A
G
S
L
L
C
A
Y
F
V
T
E
-
Q
K
L
Q
V
G
D
Y
V
L
F
G
T
Y
I
I
Q
L
Y
M
P
L
N
W
F
G
T
Y
Y
R
M
I
T
N
F
I
D
M
E
N
M
F
D
L
L
K
E
E
T
E
V
K
D
L
P
A
G
P
L
583
ABCB7 385
F
S
V
G
L
T
A
I
M
V
L
A
S
Q
G
V
A
-
G
T
L
T
V
G
D
L
M
V
N
G
L
L
F
Q
L
S
L
P
L
N
F
L
G
T
V
Y
R
T
R
Q
A
L
I
D
M
N
T
L
F
T
L
L
K
V
D
T
Q
I
K
D
K
V
M
A
S
P
L
463
ABCB8 386
F
N
C
M
V
L
G
T
L
F
I
G
G
S
L
V
A
G
-
Q
Q
L
T
G
G
D
L
M
S
F
L
V
A
S
Q
T
V
Q
R
S
M
A
N
L
S
V
L
F
G
Q
V
V
R
G
L
S
A
G
A
R
V
F
E
Y
M
A
L
N
P
C
I
P
L
S
G
G
C
C
V
P
464
ABCB9 420
L
L
V
V
Q
V
S
I
L
Y
Y
G
G
H
L
V
I
S
-
G
Q
M
T
S
G
N
L
I
A
F
I
I
Y
E
F
V
L
G
D
C
M
E
S
V
G
S
V
Y
S
G
L
M
Q
G
V
G
A
A
E
K
V
F
E
F
I
D
R
Q
P
T
M
V
H
D
G
-
-
S
L
A
496
ABCB10 406
G
N
L
I
V
L
S
V
L
Y
K
G
G
L
L
M
G
S
-
A
H
M
T
V
G
E
L
S
S
F
L
M
Y
A
F
W
V
G
I
S
I
G
G
L
S
S
F
Y
S
E
L
M
K
G
L
G
A
G
G
R
L
W
E
L
L
E
R
E
P
K
L
P
F
N
E
G
V
I
L
N
484
ABCB11 333
I
F
L
A
A
F
Y
G
S
T
L
V
L
D
E
G
E
T
P
G
T
L
V
Q
I
F
L
S
V
I
V
G
A
L
N
L
N
A
S
P
C
L
E
F
A
T
G
A
T
S
I
F
E
T
I
D
R
K
P
I
I
D
C
M
S
E
D
Y
K
412
ABCB11 992
M
F
I
A
N
S
A
S
Y
R
Y
Y
I
S
-
E
G
L
H
F
S
Y
V
F
R
V
I
S
A
V
V
L
S
A
A
L
R
A
F
S
Y
T
P
S
A
K
K
I
S
A
A
F
F
Q
L
D
P
P
I
S
V
Y
N
T
A
G
E
K
1070