Rs6314 Explained

Rsid:6314
Name 1:His452Tyr
Name 2:H452Y
Gene:HTR2A
Region:Exon 3
Chromosome:13
Szgene Geneid:293
Szgene Polyid:1867

In genetics, rs6314, also called His452Tyr or H452Y, is a gene variation, a single nucleotide polymorphism (SNP), in the HTR2A gene that codes for the 5-HT2A receptor.The SNP is located in exon 3 of the gene and the change between C and T results in a change between histidine (His) and tyrosine (Tyr) at the 452nd amino acid, i.e., it is a missense substitution.[1]

As 5-HT2A is a neuroreceptor the SNP has been investigated in connection with neuropsychiatric disorders[2] and other brain-related variables.A 2003 study looked at memory performance and found that His/His subjects performed better.[3] Another study reported that the SNP had an effect on the memory performance in young adults.[4] This has been replicated by another group.[5]

The His452Tyr variant may influence cell signaling.[6]

rs6311, rs6313 and rs7997012 are other investigated SNPs in the HTR2A gene.

Notes and References

  1. Web site: SNP linked to Gene HTR2A . NCBI.
  2. . Systematic screening for mutations in the human serotonin-2A (5-HT2A) receptor gene: Identification of two naturally occurring receptor variants and association analysis in schizophrenia . . 97 . 5 . March 1996 . 10.1007/BF02281871 . 614 - 619. 8655141 . 10300089 .
  3. Dominique J-F de Quervain . A functional genetic variation of the 5-HT2a receptor affects human memory . . 6 . 11 . November 2003 . 1141 - 1142 . 14566344 . 10.1038/nn1146 . 36336899 . etal.
  4. Papassotiropoulos, Andreas . Henke, Katharina . Aerni, Amanda . Coluccia, Daniel . Garcia, Esmeralda . Wollmer, Marc A. . Huynh, Kim-Dung . Monsch, Andreas U. . Stahelin, Hannes B. . Hock, Christoph . Nitsch, Roger M. . de Quervain, Dominique J.-F. . Age-dependent effects of the 5-hydroxytryptamine-2a-receptor polymorphism (His452Tyr) on human memory . . May 2005 . 16 . 8 . 839 - 842 . 15891581 . 10.1097/00001756-200505310-00012. 44409028 .
  5. . The His452Tyr variant of the gene encoding the 5-HT2A receptor is specifically associated with consolidation of episodic memory in humans . . July 2008 . 10.1017/S146114570800905X . 18611292 . 11 . 8. 1163–7 . free .
  6. . His452Tyr polymorphism in the human 5-HT2A receptor destabilizes the signaling conformation . . November 2004 . 66 . 5 . 1293 - 1300 . 15496511 . 10.1124/mol.66.5.1293. 39226604 .

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