ABCMdb

ABCB2 p.Val518Ile

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

PMID: 23892057 [PubMed] Gojanovich GS et al: "Characterization and allelic variation of the transporters associated with antigen processing (TAP) genes in the domestic dog (Canis lupus familiaris)."

No. Sentence Comment

190 Conversely, none of the human TAP1 polymorphic sites (V80G, L131P, I333V, A370V, V458L, V518I, D637G and R648Q) were observed to vary in the deduced sequences from our dogs. Login to comment
189 Conversely, none of the human TAP1 polymorphic sites (V80G, L131P, I333V, A370V, V458L, V518I, D637G and R648Q) were observed to vary in the deduced sequences from our dogs. Login to comment