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UniProtKB/Swiss-Prot O95264: Variant p.Ser156Arg

5-hydroxytryptamine receptor 3B
Gene: HTR3B
Variant information

Variant position:  156
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Serine (S) to Arginine (R) at position 156 (S156R, p.Ser156Arg).
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 polar (S) to large size and basic (R)
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.

Sequence information

Variant position:  156
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  441
The length of the canonical sequence.

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.




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.

Chain 22 – 441 5-hydroxytryptamine receptor 3B
Topological domain 22 – 238 Extracellular
Glycosylation 138 – 138 N-linked (GlcNAc...) asparagine
Glycosylation 168 – 168 N-linked (GlcNAc...) asparagine
Disulfide bond 155 – 169
Mutagenesis 138 – 138 N -> S. Reduced molecular weight. Very little expression in the cell membrane.
Mutagenesis 168 – 168 N -> S. Reduced molecular weight and cell membrane expression.

Literature citations

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;

A population-specific HTR2B stop codon predisposes to severe impulsivity.
Bevilacqua L.; Doly S.; Kaprio J.; Yuan Q.; Tikkanen R.; Paunio T.; Zhou Z.; Wedenoja J.; Maroteaux L.; Diaz S.; Belmer A.; Hodgkinson C.A.; Dell'osso L.; Suvisaari J.; Coccaro E.; Rose R.J.; Peltonen L.; Virkkunen M.; Goldman D.;
Nature 468:1061-1066(2010)
Cited for: VARIANT ARG-156;

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.