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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q03519: Variant p.Met577Val

Antigen peptide transporter 2
Gene: TAP2
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Variant information Variant position: help 577 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 Methionine (M) to Valine (V) at position 577 (M577V, p.Met577Val). 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 Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 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 4 common alleles are officially recognized: TAP2*01:01 (TAP2A or PSF2A or RING11A), TAP2*01:02 (TAP2E), TAP2*01:03 (TAP2F), and TAP2*02:01 (TAP2B or PSF2B or RING11B). Other relatively common alleles have been identified: TAP2*01D, TAP2*01E, TAP2*01F, TAP2*01G, TAP2*01H, TAP2*02B, TAP2*02C (TAP2*02:02), TAP2*02D, TAP2*02E, TAP2*02F, TAP2*03A and TAP2*04A. The sequence shown is that of TAP2*01:01.The allele TAP2*Bky2 is commonly found only in the Japanese population. It may be associated with susceptibility to Sjoegren syndrome, an autoimmune disorder characterized by abnormal dryness of the conjunctiva, cornea and mouth due to exocrine glands dysfunction. - Additional information on the polymorphism described.
Variant description: help In allele TAP2*BKY2. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 577 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 686 The length of the canonical sequence.
Location on the sequence: help SGSVRNNIAYGLQSCEDDKV M AAAQAAHADDFIQEMEHGIY 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 – 686 Antigen peptide transporter 2
Topological domain 430 – 686 Cytoplasmic
Domain 468 – 686 ABC transporter



Literature citations
Association of a new allele of the TAP2 gene, TAP2*Bky2 (Val577), with susceptibility to Sjogren's syndrome.
Kumagai S.; Kanagawa S.; Morinobu A.; Takada M.; Nakamura K.; Sugai S.; Maruya E.; Saji H.;
Arthritis Rheum. 40:1685-1692(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE TAP2*BKY2) (ISOFORM 1); VARIANT TAP2*BKY2 VAL-577; 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.