UniProtKB/Swiss-Prot Q03519: Variant p.Thr665Ala

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 665 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: 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: From Threonine (T) to Alanine (A) at position 665 (T665A, p.Thr665Ala). 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: Change from medium size and polar (T) to small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: 0 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: 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: In allele TAP2*02:01, allele TAP2*02B, allele TAP2*02C, allele TAP2*02D, allele TAP2*02E, allele TAP2*02F, allele TAP2*04A and allele TAP2*Bky2. Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.

• Variant rs241447 [ dbSNP | Ensembl ]

Sequence information

Variant position: 665 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 686 The length of the canonical sequence.
Location on the sequence: LQDWNSRGDRTVLVIAHRLQ T VQRAHQILVLQEGKLQKLAQ 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: 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.

Type	Positions	Description
Chain	1 – 686	Antigen peptide transporter 2
Topological domain	430 – 686	Cytoplasmic
Domain	468 – 686	ABC transporter
Alternative sequence	645 – 686	LQDWNSRGDRTVLVIAHRLQTVQRAHQILVLQEGKLQKLAQL -> KTLWKFMIF. In isoform 2.

Literature citations

Allelic variants of the human putative peptide transporter involved in antigen processing.
Colonna M.; Bresnahan M.; Bahram S.; Strominger J.L.; Spies T.;
Proc. Natl. Acad. Sci. U.S.A. 89:3932-3936(1992)
Cited for: VARIANTS ILE-379 AND ALA-665; Genotyping TAP2 variants in North American Caucasians, Brazilians, and Africans.
Tang J.; Freedman D.O.; Allen S.; Karita E.; Musonda R.; Braga C.; Jamieson B.D.; Louie L.; Kaslow R.A.;
Genes Immun. 2:32-40(2001)
Cited for: VARIANTS THR-374; ILE-379; ILE-467; SER-513; THR-565; CYS-651; ALA-665 AND GLN-GLU-GLY-GLN-ASP-LEU-TYR-SER-ARG-LEU-VAL-GLN-GLN-ARG-LEU-MET-ASP-686 INS; POLYMORPHISM;