Mutations at homologous positions to ABCB11 p.Trp330
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.Trp330*
p.Trp330Arg
|
-
-
?
D
D
?
|
| ABCB1 |
p.Phe303Cys
p.Phe303Arg
p.Gln946Ala
p.Gln946Cys
p.Gln946Arg
|
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
|
| ABCB4 |
p.Gln945*
|
-
-
?
|
Mutations +/- 5 a.a. around the position:
| ABCB11 |
p.Gly327Glu
|
D
D
?
|
| ABCB1 |
p.Ser298Cys
p.Ser298Ala
p.Ser298Arg
p.Ile299Met
p.Ile299Cys
p.Gly300Val
p.Ala301Thr
p.Ala301Val
p.Ala301Cys
p.Ala301Asp
p.Ala302Cys
p.Ala302Arg
p.Leu304Cys
p.Ile306Cys
p.Ile306Glu
p.Ile306Arg
p.Ile306Ala
p.Tyr307Cys
p.Tyr307Phe
p.Tyr307Arg
p.Thr941Ala
p.Thr941Cys
p.Thr941Gly
p.Phe942Ala
p.Phe942Cys
p.Phe942Arg
p.Ser943Ala
p.Ser943Cys
p.Phe944Ala
p.Phe944Cys
p.Thr945Ala
p.Thr945Cys
p.Thr945Arg
p.Thr945Glu
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
|
N
D
?
N
N
?
D
D
?
N
N
?
N
N
?
D
D
?
N
N
?
N
N
?
N
N
?
D
N
?
N
N
?
D
D
?
N
D
?
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
N
N
?
D
D
?
N
N
?
N
N
?
N
D
?
D
D
?
D
D
?
D
D
?
N
N
?
N
D
?
D
D
?
N
D
?
N
N
?
D
N
?
D
N
?
D
N
?
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
?
|
| ABCB3 |
p.Val379Ile
p.Val379Ala
p.Arg380Gln
|
N
N
N
N
N
?
D
N
?
|
| ABCB4 |
p.Met301Thr
p.Gly302Ala
p.Phe941Ser
p.Ala946Thr
p.Phe947Ala
p.Met948Ile
p.Tyr949Ala
p.Tyr949Phe
p.Tyr949Gln
|
N
D
?
D
D
?
D
D
?
N
D
?
N
N
?
N
N
?
D
D
?
N
N
?
D
D
?
|
The alignment around the queried position:
ABCB11 291
A
A
F
G
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
370
ABCB1 264
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
342
ABCB1 907
V
L
T
Q
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
985
ABCB2 437
V
R
S
F
A
N
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
515
ABCB3 342
V
R
S
F
G
A
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
420
ABCB4 266
V
I
A
F
G
G
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
344
ABCB4 906
V
V
L
T
Q
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
984
ABCB5 442
I
V
S
L
T
R
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
520
ABCB6 463
V
K
Y
Y
N
A
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
541
ABCB7 343
V
K
Y
F
N
N
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
421
ABCB8 344
V
R
A
F
A
M
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
422
ABCB9 378
V
R
S
F
A
N
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
456
ABCB10 364
V
R
A
F
G
K
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
442
ABCB11 950
V
A
G
I
G
K
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
1028