View source for Biology:Rs6314

{{Infobox single nucleotide polymorphism
 | rsid = 6314
 | name_1 = His452Tyr
 | name_2 = H452Y
 | gene = HTR2A
 | region = Exon 3
 | chromosome = 13
 | szgene_geneid = 293
 | szgene_polyid = 1867
}}
In [[Biology:Genetics|genetics]], '''rs6314''', also called '''His452Tyr''' or '''H452Y''', is a gene variation, a single nucleotide polymorphism (SNP), in the ''HTR2A'' gene that codes for the [[Biology:5-HT2A receptor|5-HT<sub>2A</sub> receptor]].
The SNP is located in exon 3 of the gene and the change between C and T results in a change between [[Chemistry:Histidine|histidine]] (His) and [[Chemistry:Tyrosine|tyrosine]] (Tyr) at the 452nd [[Chemistry:Amino acid|amino acid]], i.e., it is a missense substitution.<ref>{{Cite web
 | url = https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=3356
 | title = SNP linked to Gene HTR2A
 | publisher = NCBI
}}</ref>

As 5-HT<sub>2A</sub> is a neuroreceptor the SNP has been investigated in connection with neuropsychiatric disorders<ref>{{Cite journal
 | author = Jeanette Erdmann, Daphne Shimron-Abarbanell, Marcella Rietschel, Margot Albus, Wolfgang Maier, Judith Körner, Brigitta Bondy, Kevin Chen, Jean C. Shih, Michael Knapp, Peter Propping and Markus M. Nöthen
 | title = Systematic screening for mutations in the human serotonin-2A (5-HT<sub>2A</sub>) receptor gene: Identification of two naturally occurring receptor variants and association analysis in schizophrenia
 | journal = Human Genetics
 | volume = 97
 | issue = 5
 |date=March 1996
 | doi = 10.1007/BF02281871
 | pages = 614&ndash;619
| pmid = 8655141
 | s2cid = 10300089
 }}</ref>
and other brain-related variables.
A 2003 study looked at memory performance and found that His/His subjects performed better.<ref>{{Cite journal
 |author          = Dominique J-F de Quervain
 |title           = A functional genetic variation of the 5-HT2a receptor affects human memory
 |journal         = Nature Genetics
 |volume          = 6
 |issue           = 11
 |date            = November 2003
 |url             = http://www.memory.ulink.icu.uzh.ch/Nat%20Neurosci%202003.pdf
 |pages           = 1141&ndash;1142
 |pmid            = 14566344
 |doi             = 10.1038/nn1146
 |s2cid = 36336899
 |display-authors = etal
}} </ref>
Another study reported that the SNP had an effect on the [[Memory|memory]] performance in young adults.<ref>{{Cite journal
 |author1=Papassotiropoulos, Andreas |author2=Henke, Katharina |author3=Aerni, Amanda |author4=Coluccia, Daniel |author5=Garcia, Esmeralda |author6=Wollmer, Marc A. |author7=Huynh, Kim-Dung |author8=Monsch, Andreas U. |author9=Stahelin, Hannes B. |author10=Hock, Christoph |author11=Nitsch, Roger M. |author12=de Quervain, Dominique J.-F. | title = Age-dependent effects of the 5-hydroxytryptamine-2a-receptor polymorphism (His452Tyr) on human memory
 | journal = NeuroReport
 |date=May 2005
 | volume = 16
 | issue = 8
 | pages = 839&ndash;842
 | pmid = 15891581
 | doi = 10.1097/00001756-200505310-00012
|s2cid=44409028 }}</ref>
This has been replicated by another group.<ref>{{Cite journal
 | author = Michael Wagner, Anna Schuhmacher, Sybille Schwab, Astrid Zobel and Wolfgang Maier
 | title = The His452Tyr variant of the gene encoding the 5-HT2A receptor is specifically associated with consolidation of episodic memory in humans
 | journal = The International Journal of Neuropsychopharmacology
 |date=July 2008
 | doi = 10.1017/S146114570800905X
 | pmid = 18611292
 | volume = 11
 | issue = 8
| pages = 1163–7
 | doi-access = free
 }}</ref>

The His452Tyr variant may influence [[Biology:Cell signaling|cell signaling]].<ref>{{Cite journal
 | author = Lisa A. Hazelwood and Elaine Sanders-Bush
 | title = His452Tyr polymorphism in the human 5-HT2A receptor destabilizes the signaling conformation
 | journal = Molecular Pharmacology
 |date=November 2004
 | volume = 66
 | issue = 5
 | pages = 1293&ndash;1300
 | pmid = 15496511
 | url = http://molpharm.aspetjournals.org/cgi/content/full/66/5/1293
 | doi = 10.1124/mol.66.5.1293
| s2cid = 39226604
 }}</ref>

[[Biology:Rs6311|rs6311]], [[Biology:Rs6313|rs6313]] and [[Biology:Rs7997012|rs7997012]] are other investigated SNPs in the ''HTR2A'' gene.

== References ==
{{Reflist}}

[[Category:SNPs on chromosome 13]]



{{Sourceattribution|Rs6314}}