UniProtKB/Swiss-Prot P30559: Variant p.Ala218Thr

Oxytocin receptor
Gene: OXTR
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Variant information Variant position:

218 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 Alanine (A) to Threonine (T) at position 218 (A218T, p.Ala218Thr). 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 small size and hydrophobic (A) to medium size and polar (T) 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:

Variations in OXTR are associated with social perception and behavior (PubMed:19934046, PubMed:20647384, PubMed:21896752, PubMed:22123970, PubMed:24367110). A common polymorphism (rs53576) within intron 3 of the OXTR gene has been shown to affect social behavior: compared to carriers of the G allele (GG), carriers of the A allele (AA or AG) often exhibit reduced trust, lower self-esteem and increased susceptibility to depression and behavioral problems under stress (PubMed:19934046, PubMed:20647384, PubMed:21896752, PubMed:22123970). Another polymorphism within intron 3 (rs237887) is associated with social memory: individuals with the A allele (considered as the ancestral allele) are associated with impaired face recognition memory, reduced emotional empathy and lower prosociality (PubMed:24367110). Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs4686302 [ dbSNP | Ensembl ]

Sequence information Variant position:

218 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

389 The length of the canonical sequence.
Location on the sequence:

KAYITWITLAVYIVPVIVLA A CYGLISFKIWQNLRLKTAAA 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.
Residue conservation:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         KAYITWITLAVYIVPVIVLAACYGLISFKIWQNLRLKTAAA

Rhesus macaque                KAYITWITLAVYIVPVIVLAACYGLISFKIWQNLRLKTAAA

Mouse                         KAYVTWITLAVYIVPVIVLAACYGLISFKIWQNLRLKTAAA

Rat                           KAYVTWITLAVYIVPVIVLAACYGLISFKIWQNLRLKTAAA

Pig                           KAYITWITLAVYIVPVIVLAACYGLISFKIWQNLRLKTAAE

Bovine                        KAYITWITLAVYIVPVIVLATCYGLISFKIWQNLRLKTAAA

Sheep                         KAYITWITLAVYIVPVIVLAACYGLISFKIWQNLRLKTEAA

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 – 389	Oxytocin receptor
Transmembrane	200 – 225	Helical; Name=5
Mutagenesis	200 – 200	Y -> A. Decreased aallosteric activation by cholesterol.
Mutagenesis	201 – 201	I -> A. Decreased activation by oxytocin.
Mutagenesis	203 – 203	W -> A. Decreased activation by cholesterol.
Mutagenesis	204 – 204	I -> A. Decreased activation by oxytocin.
Helix	211 – 234

Literature citations
Structure and expression of a human oxytocin receptor.
Kimura T.; Tanizawa O.; Mori K.; Brownstein M.J.; Okayama H.;
Nature 356:526-529(1992)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT THR-218;
cDNA clones of human proteins involved in signal transduction sequenced by the Guthrie cDNA resource center (www.cdna.org).
Kopatz S.A.; Aronstam R.S.; Sharma S.V.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT THR-218;

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.