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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q03518: Variant p.Gly419Cys

Antigen peptide transporter 1
Gene: TAP1
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Variant information Variant position: help 419 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change: help From Glycine (G) to Cysteine (C) at position 419 (G419C, p.Gly419Cys). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from glycine (G) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Polymorphism: help There are five common alleles; TAP1*01:01 (PSF1A), TAP1*02:01 (PSF1B), TAP1*03:01 (PSF1C), TAP1*01:04 and TAP1*x. The sequence of TAP1*01:01 is shown here. Additional information on the polymorphism described.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 419 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 748 The length of the canonical sequence.
Location on the sequence: help TLNQKEAVAYAVNSWTTSIS G MLLKVGILYIGGQLVTSGAV The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Sequence annotation in neighborhood: help The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.
TypePositionsDescription
Chain 1 – 748 Antigen peptide transporter 1
Transmembrane 419 – 439 Helical; Name=9
Domain 187 – 470 ABC transmembrane type-1
Region 375 – 420 Part of the peptide-binding site



Literature citations
Novel TAP1 polymorphisms in indigenous Zimbabweans: their potential implications on TAP function and in human diseases.
Lajoie J.; Zijenah L.S.; Faucher M.C.; Ward B.J.; Roger M.;
Hum. Immunol. 64:823-829(2003)
Cited for: VARIANTS SER-7; ARG-17; VAL-333; VAL-370; CYS-419; LEU-458; GLY-637 AND GLN-648; POLYMORPHISM;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.