UniProtKB/Swiss-Prot O95264: Variant p.Tyr129Ser

5-hydroxytryptamine receptor 3B
Gene: HTR3B
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Variant information Variant position:

129 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 Tyrosine (Y) to Serine (S) at position 129 (Y129S, p.Tyr129Ser). 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 aromatic (Y) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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 rs1176744 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

PLSAIWAPDIIINEFVDIER Y PDLPYVYVNSSGTIENYKPI 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                         PLSAIWAPDIIINEFVDIERYPDLPYVYVNSSGTIENYKPI

Mouse                         PLSALWAPDIIINEFVDVERSPDLPYVYVNSSGTIRNHKPI

Rat                           PLSAIWAPDIIINEFVDVERSPDLPYVYVNSSGTIRNHKPI

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	22 – 441	5-hydroxytryptamine receptor 3B
Topological domain	22 – 238	Extracellular
Glycosylation	138 – 138	N-linked (GlcNAc...) asparagine
Mutagenesis	138 – 138	N -> S. Reduced molecular weight. Very little expression in the cell membrane.

Literature citations
Tissue-specific alternative promoters of the serotonin receptor gene HTR3B in human brain and intestine.
Tzvetkov M.V.; Meineke C.; Oetjen E.; Hirsch-Ernst K.; Brockmoller J.;
Gene 386:52-62(2007)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); VARIANT SER-129; Investigation of the human serotonin receptor gene HTR3B in bipolar affective and schizophrenic patients.
Frank B.; Niesler B.; Noethen M.M.; Neidt H.; Propping P.; Bondy B.; Rietschel M.; Maier W.; Albus M.; Rappold G.;
Am. J. Med. Genet. B Neuropsychiatr. Genet. 131:1-5(2004)
Cited for: VARIANTS SER-129; ARG-156 AND ILE-183; Mutational analysis of serotonin receptor genes: HTR3A and HTR3B in fibromyalgia patients.
Frank B.; Niesler B.; Bondy B.; Spaeth M.; Pongratz D.E.; Ackenheil M.; Fischer C.; Rappold G.;
Clin. Rheumatol. 23:338-344(2004)
Cited for: VARIANTS SER-129; ARG-156 AND ILE-183; Distinguishable haplotype blocks in the HTR3A and HTR3B region in the Japanese reveal evidence of association of HTR3B with female major depression.
Yamada K.; Hattori E.; Iwayama Y.; Ohnishi T.; Ohba H.; Toyota T.; Takao H.; Minabe Y.; Nakatani N.; Higuchi T.; Detera-Wadleigh S.D.; Yoshikawa T.;
Biol. Psychiatry 60:192-201(2006)
Cited for: VARIANTS SER-129; THR-143 AND ILE-183;

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.