UniProtKB/Swiss-Prot Q03518: Variant p.Arg648Gln

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 648 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 Arginine (R) to Glutamine (Q) at position 648 (R648Q, p.Arg648Gln). 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 large size and basic (R) to medium size and polar (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: 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: 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.
Variant description: In allele TAP1*04:01. Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.

• Variant rs1057149 [ dbSNP | Ensembl ]

Sequence information

Variant position: 648 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 748 The length of the canonical sequence.
Location on the sequence: LPQGYDTEVDEAGSQLSGGQ R QAVALARALIRKPCVLILDD 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 – 748	Antigen peptide transporter 1
Topological domain	465 – 748	Cytoplasmic
Domain	503 – 742	ABC transporter
Helix	645 – 657

Literature citations

TAP1 alleles in insulin-dependent diabetes mellitus: a newly defined centromeric boundary of disease susceptibility.
Jackson D.G.; Capra J.D.;
Proc. Natl. Acad. Sci. U.S.A. 90:11079-11083(1993)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS VAL-333; LEU-458; GLY-637 AND GLN-648; POLYMORPHISM; New allelic polymorphisms in TAP genes.
Szafer F.; Oksenberg J.R.; Steinman L.;
Immunogenetics 39:374-374(1994)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 631-663; VARIANTS GLY-637 AND GLN-648; POLYMORPHISM; TAP1 polymorphisms in several human ethnic groups: characteristics, evolution, and genotyping strategies.
Tang J.; Freedman D.O.; Allen S.; Karita E.; Musonda R.; Braga C.; Margolick J.; Kaslow R.A.;
Hum. Immunol. 62:256-268(2001)
Cited for: VARIANTS VAL-333; VAL-370; LEU-458; ILE-518; GLY-637 AND GLN-648; POLYMORPHISM; 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;