Mutations in ABCB2
reference sequence
Region |
Mutation |
|
|
Publications |
Sentences |
MutMiner_hits |
SNAP2 |
PROVEAN |
Effect_ExpVar |
CLa |
p.Glu
3
Ser
|
details |
homologous mutations |
1 |
3 |
3 |
N |
N |
? |
CLa |
p.Glu
3
Asp
|
details |
homologous mutations |
1 |
3 |
3 |
N |
N |
? |
CLa |
p.Glu
3
Ala
|
details |
homologous mutations |
1 |
2 |
2 |
N |
N |
? |
CLa |
p.Cys
12
Ser
|
details |
homologous mutations |
2 |
3 |
3 |
D |
N |
? |
CLa |
p.Ser
13
Asp
|
details |
homologous mutations |
1 |
1 |
1 |
D |
N |
? |
CLa |
p.Leu
33
Pro
|
details |
homologous mutations |
1 |
1 |
1 |
D |
N |
? |
CLa |
p.Gly
34
Ala
|
details |
homologous mutations |
1 |
2 |
3 |
N |
N |
? |
CLa |
p.Gly
44
Ser
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
CLa |
p.Pro
60
Phe
|
details |
homologous mutations |
1 |
1 |
1 |
D |
N |
? |
TMD0,THa |
p.Gly
77
Arg
|
details |
homologous mutations |
1 |
1 |
1 |
D |
N |
? |
TMD0,THa |
p.Val
94
Asp
|
details |
homologous mutations |
1 |
1 |
1 |
D |
N |
? |
TMD0,ELa |
p.Thr
98
Gly
|
details |
homologous mutations |
5 |
30 |
35 |
N |
N |
? |
TMD0,THb |
p.Ser
105
Cys
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD0,THb |
p.Val
117
Met
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
TMD0,CLb |
p.Val
135
Ile
|
details |
homologous mutations |
1 |
2 |
2 |
N |
N |
? |
TMD0,CLb |
p.Ser
142
Ala
|
details |
homologous mutations |
1 |
4 |
4 |
N |
N |
? |
TMD0,THc |
p.Leu
156
Tyr
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
TMD0,THc |
p.Ala
160
Cys
|
details |
homologous mutations |
1 |
3 |
3 |
N |
N |
? |
TMD0,ELb |
p.Gly
183
Asp
|
details |
homologous mutations |
1 |
2 |
2 |
N |
N |
? |
TMD0,THd |
p.Phe
200
Leu
|
details |
homologous mutations |
1 |
2 |
2 |
N |
N |
? |
TMD0,THd |
p.Ala
207
Arg
|
details |
homologous mutations |
1 |
1 |
1 |
D |
N |
? |
TMD1,TH1 |
p.Leu
247
Val
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
TMD1,EL1 |
p.Gln
277
Cys
|
details |
homologous mutations |
3 |
11 |
13 |
N |
D |
? |
TMD1,CL1 |
p.Val
316
Met
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
TMD1,CL1 |
p.Ser
353
Cys
|
details |
homologous mutations |
1 |
2 |
2 |
N |
D |
? |
TMD1,TH3 |
p.Ile
379
Val
|
details |
homologous mutations |
6 |
31 |
33 |
N |
N |
? |
TMD1,TH3 |
p.Ile
379
Ala
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
TMD1,TH4 |
p.Ile
393
Val
|
details |
homologous mutations |
4 |
8 |
9 |
N |
N |
N |
TMD1,TH4 |
p.Val
405
Leu
|
details |
homologous mutations |
1 |
1 |
2 |
N |
N |
? |
TMD1,TH4 |
p.Tyr
409
Cys
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD1,CL2 |
p.Lys
463
Ala
|
details |
homologous mutations |
1 |
4 |
4 |
D |
D |
? |
TMD1,TH5 |
p.Ala
465
Val
|
details |
homologous mutations |
1 |
1 |
1 |
D |
D |
? |
TMD1,TH6 |
p.Val
518
Ile
|
details |
homologous mutations |
2 |
4 |
4 |
N |
N |
? |
TMD1,TH6 |
p.Val
518
Leu
|
details |
homologous mutations |
1 |
2 |
2 |
N |
N |
? |
CL3,NBD1 |
p.Ala
608
Ser
|
details |
homologous mutations |
1 |
2 |
2 |
N |
N |
? |
CL3,NBD1 |
p.Ala
609
Gly
|
details |
homologous mutations |
1 |
2 |
2 |
N |
N |
? |
CL3,NBD1 |
p.Pro
630
Ala
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
CL3,NBD1 |
p.Gly
645
Ala
|
details |
homologous mutations |
1 |
3 |
4 |
N |
N |
? |
CL3,NBD1 |
p.Gly
645
Arg
|
details |
homologous mutations |
1 |
4 |
4 |
D |
D |
? |
CL3,NBD1 |
p.Gln
665
Ala
|
details |
homologous mutations |
1 |
2 |
2 |
N |
N |
? |
CL3,NBD1 |
p.Asp
697
Gly
|
details |
homologous mutations |
5 |
15 |
16 |
D |
N |
N |
CL3,NBD1 |
p.Pro
749
Thr
|
details |
homologous mutations |
1 |
1 |
1 |
N |
N |
? |
CL3,NBD1 |
p.Gln
788
Lys
|
details |
homologous mutations |
1 |
1 |
1 |
D |
N |
? |