Mutations at homologous positions to ABCB11 p.Cys336
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 |
||
---|---|---|
ABCB11 |
p.Cys336Ser
|
N
N
?
|
ABCB1 |
p.Ser952Ala
p.Ser952Arg
|
N
N
?
D
D
?
|
Mutations +/- 5 a.a. around the position:
ABCB11 |
p.Tyr337His
p.Leu339Val
|
D
D
?
N
N
?
|
ABCB1 |
p.Leu304Cys
p.Ile306Cys
p.Ile306Glu
p.Ile306Arg
p.Ile306Ala
p.Tyr307Cys
p.Tyr307Phe
p.Tyr307Arg
p.Tyr310Phe
p.Ala313Gly
p.Phe314Cys
p.Ala947Leu
p.Ala947Cys
p.Ala947Val
p.Met948Ala
p.Met948Ile
p.Met949Ala
p.Met949Cys
p.Met949Arg
p.Tyr950Ala
p.Tyr950Cys
p.Tyr950Phe
p.Tyr950Arg
p.Phe951Ala
p.Tyr953Ala
p.Tyr953Cys
p.Tyr953Phe
p.Tyr953Arg
p.Ala954Leu
p.Ala954Cys
p.Gly955Val
p.Cys956Ala
p.Cys956Ser
p.Phe957Ala
p.Phe957Cys
|
N
D
?
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
N
N
?
D
D
?
N
D
?
N
D
?
N
D
?
D
D
?
N
N
?
D
D
?
N
D
?
N
N
?
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
N
N
?
D
D
?
N
D
?
D
D
?
D
D
?
N
D
?
D
D
?
D
D
?
N
D
?
N
D
?
N
D
?
N
D
?
N
D
?
N
D
?
|
ABCB4 |
p.Ala946Thr
p.Phe947Ala
p.Met948Ile
p.Tyr949Ala
p.Tyr949Phe
p.Tyr949Gln
p.Ala953Asp
p.Gly954Ser
|
N
D
?
N
N
?
N
N
?
D
D
?
N
N
?
D
D
?
D
D
?
N
N
?
|
The alignment around the queried position:
ABCB11 297
K
E
V
E
Y
E
K
N
L
V
F
A
W
G
I
R
K
G
I
V
M
G
F
F
T
F
V
C
L
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
376
ABCB1 270
Q
L
N
K
L
E
E
A
R
I
I
K
K
A
L
A
S
A
L
Y
G
L
V
S
-
Y
I
G
V
348
ABCB1 913
E
Q
K
F
E
H
M
Y
A
Q
S
L
Q
V
P
Y
R
N
S
L
R
K
R
F
G
A
Y
L
V
A
H
-
K
L
M
S
F
E
D
V
V
991
ABCB2 443
E
E
G
E
A
Q
K
F
R
E
K
L
Q
E
I
K
T
L
N
Q
E
V
A
Y
A
V
N
S
W
T
T
S
I
S
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
521
ABCB3 348
E
E
H
E
V
R
Y
K
E
A
L
E
Q
R
Q
L
Y
W
R
R
D
L
E
L
Y
L
L
R
V
L
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
426
ABCB4 272
Q
N
K
E
L
E
R
Q
K
H
L
E
N
K
E
I
G
I
K
K
A
I
S
A
N
S
I
A
F
L
L
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
350
ABCB4 912
E
R
K
F
E
S
M
Y
V
E
K
L
Y
G
P
Y
R
N
S
V
Q
K
H
Y
G
I
T
S
I
S
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
990
ABCB5 448
E
K
A
F
E
Q
M
Y
E
E
M
L
Q
T
Q
H
R
N
T
S
K
K
A
Q
I
I
G
S
C
Y
A
F
S
H
A
F
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
526
ABCB6 469
E
S
Y
E
V
E
R
Y
R
E
A
I
I
K
Y
Q
G
L
E
W
K
S
S
A
S
L
V
L
L
N
Q
T
Q
N
L
V
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
547
ABCB7 349
E
R
Y
E
A
Q
R
Y
D
G
F
L
K
T
Y
E
T
A
S
L
K
S
T
S
T
L
A
M
L
N
F
G
Q
S
A
I
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
427
ABCB8 350
E
Q
R
E
E
E
R
Y
G
A
E
L
E
A
C
R
C
R
A
E
E
L
G
R
G
I
A
L
F
Q
G
L
S
N
I
A
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
428
ABCB9 384
E
E
E
E
A
E
V
Y
L
R
K
L
Q
Q
V
Y
K
L
N
R
K
E
A
A
A
Y
M
Y
Y
V
W
G
S
G
L
T
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
462
ABCB10 370
E
M
T
E
I
E
K
Y
A
S
K
V
D
H
V
M
Q
L
A
R
K
E
A
F
A
R
A
G
F
F
G
A
T
G
L
S
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
448
ABCB11 956
E
R
F
I
E
A
L
E
E
L
E
K
P
F
K
T
A
I
Q
K
A
I
Y
F
C
F
A
F
A
Q
C
I
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
1034