Mutations at homologous positions to ABCB1 p.Leu304
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 |
||
|---|---|---|
| ABCB1 |
p.Leu304Cys
p.Ala947Leu
p.Ala947Cys
p.Ala947Val
|
N
D
?
D
D
?
N
N
?
D
D
?
|
| ABCB4 |
p.Ala946Thr
|
N
D
?
|
Mutations +/- 5 a.a. around the position:
| ABCB1 |
p.Ile299Met
p.Ile299Cys
p.Gly300Val
p.Ala301Thr
p.Ala301Val
p.Ala301Cys
p.Ala301Asp
p.Ala302Cys
p.Ala302Arg
p.Phe303Cys
p.Phe303Arg
p.Ile306Cys
p.Ile306Glu
p.Ile306Arg
p.Ile306Ala
p.Tyr307Cys
p.Tyr307Phe
p.Tyr307Arg
p.Phe942Ala
p.Phe942Cys
p.Phe942Arg
p.Ser943Ala
p.Ser943Cys
p.Phe944Ala
p.Phe944Cys
p.Thr945Ala
p.Thr945Cys
p.Thr945Arg
p.Thr945Glu
p.Gln946Ala
p.Gln946Cys
p.Gln946Arg
p.Met948Ala
p.Met948Ile
p.Met949Ala
p.Met949Cys
p.Met949Arg
p.Tyr950Ala
p.Tyr950Cys
p.Tyr950Phe
p.Tyr950Arg
p.Phe951Ala
p.Ser952Ala
p.Ser952Arg
|
N
N
?
N
N
?
D
D
?
N
N
?
N
N
?
N
N
?
D
N
?
N
N
?
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
N
N
?
D
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
?
D
D
?
D
D
?
N
D
?
N
N
?
D
D
?
D
D
?
D
D
?
D
D
?
D
D
?
N
N
?
D
D
?
N
D
?
N
N
?
D
D
?
|
| ABCB11 |
p.Gly327Glu
p.Trp330*
p.Trp330Arg
p.Cys336Ser
|
D
D
?
-
-
?
D
D
?
N
N
?
|
| ABCB3 |
p.Val379Ile
p.Val379Ala
p.Arg380Gln
|
N
N
N
N
N
?
D
N
?
|
| ABCB4 |
p.Met301Thr
p.Gly302Ala
p.Phe941Ser
p.Gln945*
p.Phe947Ala
p.Met948Ile
p.Tyr949Ala
p.Tyr949Phe
p.Tyr949Gln
|
N
D
?
D
D
?
D
D
?
-
-
?
N
N
?
N
N
?
D
D
?
N
N
?
D
D
?
|
The alignment around the queried position:
ABCB1 265
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
343
ABCB1 908
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
986
ABCB2 438
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
Q
516
ABCB3 343
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
S
421
ABCB4 267
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
F
345
ABCB4 907
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
V
985
ABCB5 443
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
521
ABCB6 464
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
M
542
ABCB7 344
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
L
422
ABCB8 345
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
R
423
ABCB9 379
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
D
457
ABCB10 365
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
I
443
ABCB11 292
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
L
371
ABCB11 951
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
1029