Mutations at homologous positions to ABCB1 p.Ala348
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.Ala348Cys
p.Val991Ala
p.Val991Cys
|
N
D
?
N
N
?
N
N
?
|
Mutations +/- 5 a.a. around the position:
| ABCB1 |
p.Phe343Cys
p.Phe343Arg
p.Phe343Tyr
p.Phe343Met
p.Phe343Ala
p.Ser344Cys
p.Ser344Ala
p.Val345Cys
p.Gly346Cys
p.Gln347Cys
p.Gln347Ala
p.Ser349Cys
p.Ser349Ala
p.Pro350Cys
p.Pro350Ser
p.Ser351Asn
p.Ser351Ala
p.Ser351Cys
p.Met986Ala
p.Met986Val
p.Met986Cys
p.Met986Arg
p.Ala987Cys
p.Val988Ala
p.Val988Cys
p.Gly989Cys
p.Gln990Ala
p.Gln990Cys
p.Ser992Asn
p.Ser992Cys
p.Ser992Ala
p.Ser993Cys
p.Ser993Ala
p.Ser993Arg
p.Phe994Cys
p.Pro996Gln
|
D
D
?
D
D
?
N
N
?
N
D
?
D
D
?
N
N
?
D
N
?
D
D
?
D
D
?
D
D
?
D
D
?
D
N
?
N
N
?
D
D
?
N
D
?
N
N
?
N
N
?
N
N
?
D
D
?
N
N
?
D
D
?
D
D
?
D
D
?
N
D
?
D
D
?
D
D
?
D
D
?
D
D
?
D
N
?
D
D
?
D
N
?
D
D
?
D
N
?
D
D
?
D
D
?
D
D
?
|
| ABCB11 |
p.Gly374Ser
p.Thr1029Lys
p.Gly1032Arg
|
D
D
?
D
N
?
D
D
?
|
| ABCB2 |
p.Val518Ile
p.Val518Leu
|
N
N
?
N
N
?
|
| ABCB4 |
p.Ser346Ile
p.Pro352Leu
|
D
D
?
D
D
?
|
| ABCB5 |
p.Lys521Leu
|
N
D
?
|
The alignment around the queried position:
ABCB1 310
A
L
Y
G
L
V
S
-
Y
I
G
V
I
E
F
A
N
A
R
A
Y
E
I
F
K
I
N
K
S
I
D
S
Y
S
S
G
H
K
P
D
N
-
388
ABCB1 953
R
F
G
A
Y
L
V
A
H
-
K
L
M
S
F
E
D
V
V
A
D
Y
K
A
K
I
S
A
H
I
I
M
I
I
K
P
L
I
D
S
Y
S
T
E
G
L
M
N
T
-
1031
ABCB2 483
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
L
S
I
Y
P
R
V
Q
K
A
V
G
S
S
E
K
I
F
E
Y
L
D
R
T
P
R
C
P
P
S
G
-
-
L
L
T
P
L
H
-
559
ABCB3 388
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
V
Y
I
Y
G
D
M
L
S
N
V
G
A
A
E
K
V
F
S
Y
M
D
R
Q
P
N
L
P
S
P
G
-
-
T
L
A
P
T
T
-
464
ABCB4 312
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
A
C
I
D
A
A
N
A
R
G
A
Y
V
F
D
I
I
D
N
N
P
K
I
D
S
F
S
E
R
G
H
K
P
D
S
-
390
ABCB4 952
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
S
S
F
A
P
D
Y
A
K
A
K
L
S
A
A
H
L
F
M
L
F
E
R
Q
P
L
I
D
S
Y
S
E
E
L
K
P
D
K
-
1030
ABCB5 488
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
L
V
L
A
P
E
Y
S
K
A
K
S
G
A
A
H
L
F
A
L
L
E
K
K
P
N
I
D
S
R
S
Q
E
G
K
P
D
T
-
566
ABCB6 509
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
G
T
Y
Y
R
M
I
T
N
F
I
D
M
E
N
M
F
D
L
L
K
E
E
T
E
V
K
D
L
P
A
G
P
L
R
F
Q
-
587
ABCB7 389
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
G
T
V
Y
R
T
R
Q
A
L
I
D
M
N
T
L
F
T
L
L
K
V
D
T
Q
I
K
D
K
V
M
A
S
P
L
Q
I
T
P
467
ABCB8 390
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
S
V
L
F
G
Q
V
V
R
G
L
S
A
G
A
R
V
F
E
Y
M
A
L
N
P
C
I
P
L
S
G
G
C
C
V
P
K
E
Q
-
468
ABCB9 424
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
G
S
V
Y
S
G
L
M
Q
G
V
G
A
A
E
K
V
F
E
F
I
D
R
Q
P
T
M
V
H
D
G
-
-
S
L
A
P
D
H
-
500
ABCB10 410
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
S
S
F
Y
S
E
L
M
K
G
L
G
A
G
G
R
L
W
E
L
L
E
R
E
P
K
L
P
F
N
E
G
V
I
L
N
E
K
S
-
488
ABCB11 337
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
S
P
C
L
E
F
A
T
G
A
T
S
I
F
E
T
I
D
R
K
P
I
I
D
C
M
S
E
D
Y
K
D
-
416
ABCB11 996
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
F
S
Y
T
P
S
A
K
K
I
S
A
A
F
F
Q
L
D
P
P
I
S
V
Y
N
T
A
G
E
K
W
D
N
-
1074