UniProtKB/Swiss-Prot P47881: Variant p.Arg125Gln

Olfactory receptor 3A1
Gene: OR3A1
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Variant information Variant position:

125 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 125 (R125Q, p.Arg125Gln). 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
Other resources:

Links to websites of interest for the variant.

Variant rs703903 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

FFFHLFVGVDCFLLTAMAYD R FLAICRPLTYSTRMSQTVQR 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                         FFFHLFVGVDCFLLTAMAYDRFLAICRPLTYSTRMSQTVQR

Gorilla                       FFFHLFVGVDCFLLIAMAYDRFLAICRPLTYSTRMSQTVQR

Chimpanzee                    FFFHLFVGVDCFLLTAMAYDRFLAICRPLTYSTRMSQTVQR

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 – 315	Olfactory receptor 3A1
Topological domain	124 – 143	Cytoplasmic
Disulfide bond	100 – 192

Literature citations
Olfactory receptor-encoding genes and pseudogenes are expressed in humans.
Crowe M.L.; Perry B.N.; Connerton I.F.;
Gene 169:247-249(1996)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT GLN-125; Sequence, structure, and evolution of a complete human olfactory receptor gene cluster.
Glusman G.; Sosinsky A.; Ben-Asher E.; Avidan N.; Sonkin D.; Bahar A.; Rosenthal A.; Clifton S.; Roe B.; Ferraz C.; Demaille J.G.; Lancet D.;
Genomics 63:227-245(2000)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT GLN-125; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT GLN-125; Olfactory receptor gene cluster on human chromosome 17: possible duplication of an ancestral receptor repertoire.
Ben-Arie N.; Lancet D.; Taylor C.; Khen M.; Walker N.; Ledbetter D.H.; Carrozzo R.; Patel K.; Sheer D.; Lehrach H.; North M.A.;
Hum. Mol. Genet. 3:229-235(1994)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 71-286; VARIANT GLN-125;

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.