UniProtKB/Swiss-Prot P30559: Variant p.Ala16Ser

Oxytocin receptor
Gene: OXTR
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Variant information Variant position:

16 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 Serine (S) at position 16 (A16S, p.Ala16Ser). 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 small size and polar (S) 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:

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 rs237906 [ dbSNP | Ensembl ]

Sequence information Variant position:

16 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:

MEGALAANWSAEAAN A SAAPPGAEGNRTAGPPRRNE 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                         MEGALAANWSAEAANASAAPPGAEGNRTAGPPRRNE

Rhesus macaque                MEGELAANWSTEAVNSSAAPPGAEGNCTAGPPRRNE

Mouse                         MEGTPAANWSIELDLGSGVPPGAEGNLTAGPPRRNE

Rat                           MEGTPAANWSVELDLGSGVPPGEEGNRTAGPPQRNE

Pig                           MEGVLAANWSAEAVNSSAAPPEAEGNRTAGPPQRNE

Bovine                        MEGAFAANWSAEAVNGSAAPPGTEGNRTAGPPQRNE

Sheep                         MEGAFAANWSAEAVNGSAAPPGTEGNRTAGPPQRNE

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
Topological domain	1 – 35	Extracellular
Region	7 – 31	Disordered
Compositional bias	7 – 26	Low complexity
Glycosylation	8 – 8	N-linked (GlcNAc...) asparagine
Glycosylation	15 – 15	N-linked (GlcNAc...) asparagine
Glycosylation	26 – 26	N-linked (GlcNAc...) asparagine
Mutagenesis	34 – 34	R -> A. Decreased activation by oxytocin.

Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.

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.