Mutations at homologous positions to ABCB3 p.Val379
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 |
||
---|---|---|
ABCB3 |
p.Val379Ile
p.Val379Ala
|
N
N
N
N
N
?
|
ABCB1 |
p.Ala301Thr
p.Ala301Val
p.Ala301Cys
p.Ala301Asp
p.Phe944Ala
p.Phe944Cys
|
N
N
?
N
N
?
N
N
?
D
N
?
D
D
?
N
D
?
|
Mutations +/- 5 a.a. around the position:
ABCB3 |
p.Ala374Asp
p.Ala374Thr
p.Arg380Gln
|
D
D
?
D
D
?
D
N
?
|
ABCB1 |
p.Asn296Cys
p.Asn296Ala
p.Ile297Cys
p.Ile297Arg
p.Ser298Cys
p.Ser298Ala
p.Ser298Arg
p.Ile299Met
p.Ile299Cys
p.Gly300Val
p.Ala302Cys
p.Ala302Arg
p.Phe303Cys
p.Phe303Arg
p.Leu304Cys
p.Ile306Cys
p.Ile306Glu
p.Ile306Arg
p.Ile306Ala
p.Gly939Val
p.Gly939Cys
p.Ile940Ser
p.Ile940Cys
p.Thr941Ala
p.Thr941Cys
p.Thr941Gly
p.Phe942Ala
p.Phe942Cys
p.Phe942Arg
p.Ser943Ala
p.Ser943Cys
p.Thr945Ala
p.Thr945Cys
p.Thr945Arg
p.Thr945Glu
p.Gln946Ala
p.Gln946Cys
p.Gln946Arg
p.Ala947Leu
p.Ala947Cys
p.Ala947Val
p.Met948Ala
p.Met948Ile
p.Met949Ala
p.Met949Cys
p.Met949Arg
|
D
D
?
D
D
?
N
D
?
D
D
?
N
D
?
N
N
?
D
D
?
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
D
?
D
D
?
N
D
?
N
D
?
N
N
?
N
N
?
N
D
?
D
D
?
D
D
?
D
D
?
N
N
?
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
?
D
D
?
D
D
?
D
D
?
|
ABCB11 |
p.Gly327Glu
p.Trp330*
p.Trp330Arg
p.Gly982Arg
|
D
D
?
-
-
?
D
D
?
D
D
?
|
ABCB4 |
p.Ile299Met
p.Ile299Cys
p.Met301Thr
p.Gly302Ala
p.Phe941Ser
p.Gln945*
p.Ala946Thr
p.Phe947Ala
p.Met948Ile
|
N
N
?
N
D
?
N
D
?
D
D
?
D
D
?
-
-
?
N
D
?
N
N
?
N
N
?
|
The alignment around the queried position:
ABCB3 340
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
S
418
ABCB1 262
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
340
ABCB1 905
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
983
ABCB2 435
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
Q
513
ABCB4 264
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
I
342
ABCB4 904
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
F
982
ABCB5 440
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
Y
518
ABCB6 461
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
Q
539
ABCB7 341
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
Q
419
ABCB8 342
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
T
420
ABCB9 376
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
V
454
ABCB10 362
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
W
440
ABCB11 289
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
V
368
ABCB11 948
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
L
1026