ABCMdb

ABCB3 p.Met577Val

None has been submitted yet.

Publications

PMID: 18248301 [PubMed] Deshpande A et al: "Variation in HLA class I antigen-processing genes and susceptibility to human papillomavirus type 16-associated cervical cancer."

No. Sentence Comment

163 SNP designation Allele Function Minor-allele risk/protection status TAP1-03 G/T Changes codon 458 from valine to leucine; included in peptide-binding region of transporter [35, 36]; effect on function unknown Protective TAP1-04 G/T Intron 6 Protective TAP1-06 G/A Changes codon 518 from valine to isoleucine; contributes to hydrophilic nucleotide-binding domain of transporter for processed antigens; functional effect demonstrated for kinase-binding domain of the A kinase-anchoring protein 2 [37] Risk TAP1-07 A/G Changes codon 637 from aspartate to glycine; contributes to nucleotide-binding domain of transporter for processed antigens; affects transporter preference for peptides [38] Risk TAP2-02 G/T Synonymous change in codon 386; contributes to nucleotide-binding domain of transporter for processed antigens; effect on function unknown Risk TAP2-04 A/G New SNP in intron 6, discovered and validated Protective TAP2-09 A/G Changes codon 577 from methionine to valine; sequence alignment predicts involvement in ATP binding by transporter; effect on function unknown Risk Tapasin-02 G/T New SNP; changes codon 59 from aspartate to tyrosine; part of N-terminal ER lumenal domain of tapasin protein; effect on function unknown. Login to comment
164 SNP designation Allele Function Minor-allele risk/protection status TAP1-03 G/T Changes codon 458 from valine to leucine; included in peptide-binding region of transporter [35, 36]; effect on function unknown Protective TAP1-04 G/T Intron 6 Protective TAP1-06 G/A Changes codon 518 from valine to isoleucine; contributes to hydrophilic nucleotide-binding domain of transporter for processed antigens; functional effect demonstrated for kinase-binding domain of the A kinase-anchoring protein 2 [37] Risk TAP1-07 A/G Changes codon 637 from aspartate to glycine; contributes to nucleotide-binding domain of transporter for processed antigens; affects transporter preference for peptides [38] Risk TAP2-02 G/T Synonymous change in codon 386; contributes to nucleotide-binding domain of transporter for processed antigens; effect on function unknown Risk TAP2-04 A/G New SNP in intron 6, discovered and validated Protective TAP2-09 A/G Changes codon 577 from methionine to valine; sequence alignment predicts involvement in ATP binding by transporter; effect on function unknown Risk Tapasin-02 G/T New SNP; changes codon 59 from aspartate to tyrosine; part of N-terminal ER lumenal domain of tapasin protein; effect on function unknown. Login to comment