Mutations at homologous positions to ABCB1 p.Ile299
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.Ile299Met
p.Ile299Cys
p.Phe942Ala
p.Phe942Cys
p.Phe942Arg
|
N
N
?
N
N
?
D
D
?
D
D
?
D
D
?
|
| ABCB4 |
p.Met301Thr
p.Phe941Ser
|
N
D
?
D
D
?
|
Mutations +/- 5 a.a. around the position:
| ABCB1 |
p.Thr294Cys
p.Thr294Ala
p.Ala295Cys
p.Asn296Cys
p.Asn296Ala
p.Ile297Cys
p.Ile297Arg
p.Ser298Cys
p.Ser298Ala
p.Ser298Arg
p.Gly300Val
p.Ala301Thr
p.Ala301Val
p.Ala301Cys
p.Ala301Asp
p.Ala302Cys
p.Ala302Arg
p.Phe303Cys
p.Phe303Arg
p.Leu304Cys
p.Ile937Ser
p.Ile937Cys
p.Phe938Ala
p.Phe938Cys
p.Gly939Val
p.Gly939Cys
p.Ile940Ser
p.Ile940Cys
p.Thr941Ala
p.Thr941Cys
p.Thr941Gly
p.Ser943Ala
p.Ser943Cys
p.Phe944Ala
p.Phe944Cys
p.Thr945Ala
p.Thr945Cys
p.Thr945Arg
p.Thr945Glu
p.Gln946Ala
p.Gln946Cys
p.Gln946Arg
p.Ala947Leu
p.Ala947Cys
p.Ala947Val
|
D
D
?
N
N
?
N
D
?
D
D
?
D
D
?
N
D
?
D
D
?
N
D
?
N
N
?
D
D
?
D
D
?
N
N
?
N
N
?
N
N
?
D
N
?
N
N
?
D
D
?
D
D
?
D
D
?
N
D
?
D
D
?
N
D
?
N
D
?
D
D
?
D
D
?
D
D
?
N
D
?
N
D
?
N
N
?
N
N
?
N
D
?
N
N
?
N
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
?
|
| ABCB11 |
p.Gly327Glu
p.Trp330*
p.Trp330Arg
p.Gly982Arg
|
D
D
?
-
-
?
D
D
?
D
D
?
|
| 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.Gly302Ala
p.Ile936Ala
p.Gln945*
p.Ala946Thr
|
N
N
?
N
D
?
D
D
?
N
D
?
-
-
?
N
D
?
|
The alignment around the queried position:
ABCB1 260
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
338
ABCB1 903
N
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
981
ABCB2 433
A
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
511
ABCB3 338
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
416
ABCB4 262
A
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
340
ABCB4 902
N
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
980
ABCB5 438
N
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
516
ABCB6 459
N
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
537
ABCB7 339
N
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
417
ABCB8 340
N
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
418
ABCB9 374
A
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
452
ABCB10 360
N
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
438
ABCB11 287
S
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
366
ABCB11 946
N
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
1024