Rs4680
From Infogalactic: the planetary knowledge core
| SNP: Rs4680 | ||
|---|---|---|
| Name(s) | Val158Met, Val108/158Met, G1947A | |
| Gene | COMT | |
| Chromosome | 22 | |
| Region | Exon 3 | |
| External databases | ||
| Ensembl | Human SNPView | |
| dbSNP | 4680 | |
| HapMap | 4680 | |
| SNPedia | 4680 | |
| HgenetInfoDB | 4680 | |
| AlzGene | Meta-analysis | Overview |
| SzGene | Meta-analysis | Overview |
In genetics, rs4680 (Val158Met) is a genetic variant. It is a single nucleotide polymorphism (SNP) in the COMT gene that codes catechol-O-Methyltransferase. The single nucleotide substitution between G--> A results in an amino acid change from valine to methionine at codon 158.
The A or Met allele is associated with lower enzymatic activity (due to thermoinstability), and with exploratory behaviour.
The polymorphism has been much studied in schizophrenia research but as of November 2011 meta-analysis in the SzGene database shows no or very little effect.[1]
Several personality genetics studies have examined the association of the polymorphism with personality traits.[2][3][4][5][6]
References
- ↑ http://www.szgene.org/meta.asp?geneID=420&polyID=2954
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