Mutations at homologous positions to ABCB11 p.Gly327
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.Gly327Glu
|
D
D
?
|
| ABCB1 |
p.Gly300Val
p.Ser943Ala
p.Ser943Cys
|
D
D
?
N
N
?
N
D
?
|
| ABCB4 |
p.Gly302Ala
|
D
D
?
|
Mutations +/- 5 a.a. around the position:
| ABCB11 |
p.Trp330*
p.Trp330Arg
p.Gly982Arg
|
-
-
?
D
D
?
D
D
?
|
| ABCB1 |
p.Ala295Cys
p.Asn296Cys
p.Asn296Ala
p.Ile297Cys
p.Ile297Arg
p.Ser298Cys
p.Ser298Ala
p.Ser298Arg
p.Ile299Met
p.Ile299Cys
p.Ala301Thr
p.Ala301Val
p.Ala301Cys
p.Ala301Asp
p.Ala302Cys
p.Ala302Arg
p.Phe303Cys
p.Phe303Arg
p.Leu304Cys
p.Phe938Ala
p.Phe938Cys
p.Gly939Val
p.Gly939Cys
p.Ile940Ser
p.Ile940Cys
p.Thr941Ala
p.Thr941Cys
p.Thr941Gly
p.Phe942Ala
p.Phe942Cys
p.Phe942Arg
p.Phe944Ala
p.Phe944Cys
p.Thr945Ala
p.Thr945Cys
p.Thr945Arg
p.Thr945Glu
p.Gln946Ala
p.Gln946Cys
p.Gln946Arg
p.Ala947Leu
p.Ala947Cys
p.Ala947Val
p.Met948Ala
p.Met948Ile
|
N
D
?
D
D
?
D
D
?
N
D
?
D
D
?
N
D
?
N
N
?
D
D
?
N
N
?
N
N
?
N
N
?
N
N
?
N
N
?
D
N
?
N
N
?
D
D
?
D
D
?
D
D
?
N
D
?
N
D
?
D
D
?
D
D
?
D
D
?
N
D
?
N
D
?
N
N
?
N
N
?
N
D
?
D
D
?
D
D
?
D
D
?
D
D
?
N
D
?
N
N
?
D
N
?
D
N
?
D
N
?
D
D
?
D
D
?
D
D
?
D
D
?
N
N
?
D
D
?
N
D
?
N
N
?
|
| ABCB3 |
p.Arg373Cys
p.Ala374Asp
p.Ala374Thr
p.Val379Ile
p.Val379Ala
p.Arg380Gln
|
D
D
?
D
D
?
D
D
?
N
N
N
N
N
?
D
N
?
|
| ABCB4 |
p.Ile299Met
p.Ile299Cys
p.Met301Thr
p.Phe941Ser
p.Gln945*
p.Ala946Thr
p.Phe947Ala
|
N
N
?
N
D
?
N
D
?
D
D
?
-
-
?
N
D
?
N
N
?
|
The alignment around the queried position:
ABCB11 288
M
R
T
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
367
ABCB1 261
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
339
ABCB1 904
T
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
982
ABCB2 434
M
P
T
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
512
ABCB3 339
L
Q
T
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
417
ABCB4 263
I
R
T
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
341
ABCB4 903
I
R
T
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
981
ABCB5 439
I
R
T
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
517
ABCB6 460
F
E
T
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
538
ABCB7 340
Y
E
T
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
418
ABCB8 341
V
R
T
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
419
ABCB9 375
M
K
T
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
453
ABCB10 361
V
R
T
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
439
ABCB11 947
I
T
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
1025