UniProtKB/Swiss-Prot P00973: Variant p.Arg361Thr

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 361 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 Threonine (T) at position 361 (R361T, p.Arg361Thr). 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 (T) 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: Polymorphism dbSNP:rs10774671 is associated with protection against severe COVID-19 disease (PubMed:33633408, PubMed:34581622). In humans, the OAS1 protein is expressed as two major forms designated p46 and p42. The longer p46 isoform is generated by alternative splicing to an exon downstream of the terminal exon used by the p42 isoform. Although all human genotypes contain the exon that completes the transcript encoding p46, an intronic SNP (rs10774671) determines OAS1 exon usage. Alleles with a G at this SNP (G alleles) specify expression of the p46 isoform and some p42, whereas alleles with A at this position predominantly encode the p42 isoform and cannot express the p46 isoform (PubMed:34581622). The p42 isoform, which is the most common isoform in humans (~61% of alleles), has no detectable anti-SARS-CoV-2 activity. The p46 isoform has anti-SARS-CoV-2 activity (PubMed:34581622). Additional information on the polymorphism described.
Other resources: Links to websites of interest for the variant.

• Variant rs1051042 [ dbSNP | Ensembl ]

Sequence information

Variant position: 361 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 400 The length of the canonical sequence.
Location on the sequence: SSWILLAESNSADDETDDPR R YQKYGYIGTHEYPHFSHRPS 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 – 400	2'-5'-oligoadenylate synthase 1
Alternative sequence	347 – 400	AESNSADDETDDPRRYQKYGYIGTHEYPHFSHRPSTLQAASTPQAEEDWTCTIL -> TQHTPGSIHPTGRRGLDLHHPLNASASWGKGLQCYLDQFLHFQVGLLIQRGQSSSVSWCIIQDRTQVS. In isoform p48.
Alternative sequence	347 – 364	AESNSADDETDDPRRYQK -> VRPPASSLPFIPAPLHEA. In isoform p42.
Alternative sequence	361 – 400	Missing. In isoform p44.

Literature citations

Structure of two forms of the interferon-induced (2'-5') oligo A synthetase of human cells based on cDNAs and gene sequences.
Benech P.; Mory Y.; Revel M.; Chebath J.;
EMBO J. 4:2249-2256(1985)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS P42 AND P46); VARIANTS ASP-31; SER-162; THR-352 AND THR-361; The mammalian 2'-5' oligoadenylate synthetase gene family: evidence for concerted evolution of paralogous Oas1 genes in Rodentia and Artiodactyla.
Perelygin A.A.; Zharkikh A.A.; Scherbik S.V.; Brinton M.A.;
J. Mol. Evol. 63:562-576(2006)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM P48); VARIANTS SER-162; THR-352 AND THR-361; Susceptibility to infection by West Nile Virus: OAS1 (OAS1 2'-5' oligoadenylate synthetase gene) stop codon detected in exon 1 of a normal individual heterozygous for the gene.
Lee M.-K.; Morshed M.G.; Jorgensen D.R.; Hasselback P.; Goh S.-H.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM P46); VARIANTS THR-352 AND THR-361;