genetics Genetics is the study of genes, genetic variation, and heredity in organisms.Hartl D, Jones E (2005) It is an important branch in biology because heredity is vital to organisms' evolution. Gregor Mendel, a Moravian Augustinian friar wor ...

, rs6314, also called His452Tyr or H452Y, is a gene variation, a

single nucleotide polymorphism In genetics, a single-nucleotide polymorphism (SNP ; plural SNPs ) is a germline substitution of a single nucleotide at a specific position in the genome. Although certain definitions require the substitution to be present in a sufficiently larg ...

(SNP), in the ''

HTR2A The 5-HT2A receptor is a subtype of the 5-HT2 receptor that belongs to the serotonin receptor family and is a G protein-coupled receptor (GPCR). The 5-HT2A receptor is a cell surface receptor, but has several intracellular locations. 5-HT is sh ...

'' gene that codes for the 5-HT_2A receptor. The SNP is located in exon 3 of the gene and the change between C and T results in a change between

histidine Histidine (symbol His or H) is an essential amino acid that is used in the biosynthesis of proteins. It contains an α-amino group (which is in the protonated –NH3+ form under biological conditions), a carboxylic acid group (which is in the de ...

(His) and

tyrosine -Tyrosine or tyrosine (symbol Tyr or Y) or 4-hydroxyphenylalanine is one of the 20 standard amino acids that are used by cells to synthesize proteins. It is a non-essential amino acid with a polar side group. The word "tyrosine" is from the Gr ...

(Tyr) at the 452nd

amino acid Amino acids are organic compounds that contain both amino and carboxylic acid functional groups. Although hundreds of amino acids exist in nature, by far the most important are the alpha-amino acids, which comprise proteins. Only 22 alpha am ...

, i.e., it is a

missense substitution In genetics, a missense mutation is a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid. It is a type of nonsynonymous substitution. Substitution of protein from DNA mutations Missense mu ...

. As 5-HT_2A is a

neuroreceptor A neurotransmitter receptor (also known as a neuroreceptor) is a membrane receptor protein that is activated by a neurotransmitter. Chemicals on the outside of the cell, such as a neurotransmitter, can bump into the cell's membrane, in which th ...

the SNP has been investigated in connection with

neuropsychiatric disorder A mental disorder, also referred to as a mental illness or psychiatric disorder, is a behavioral or mental pattern that causes significant distress or impairment of personal functioning. Such features may be persistent, relapsing and remitti ...

s and other brain-related variables. A 2003 study looked at memory performance and found that His/His subjects performed better. Another study reported that the SNP had an effect on the

memory Memory is the faculty of the mind by which data or information is encoded, stored, and retrieved when needed. It is the retention of information over time for the purpose of influencing future action. If past events could not be remembered, ...

performance in young adults. This has been replicated by another group. The His452Tyr variant may influence

cell signaling In biology, cell signaling (cell signalling in British English) or cell communication is the ability of a cell to receive, process, and transmit signals with its environment and with itself. Cell signaling is a fundamental property of all cellula ...

rs6311 In genetics, rs6311 is a gene variation—a single nucleotide polymorphism (SNP)—in the human ''HTR2A'' gene that codes for the 5-HT2A, 5-HT2A receptor (biology), receptor. 5-HT2A is a neuroreceptor, and several scientific studies have investigat ...

rs6313 In genetics, rs6313 also called T102C or C102T is a gene variation—a single nucleotide polymorphism (SNP)—in the human ''HTR2A'' gene that codes for the 5-HT2A receptor. The SNP is a synonymous substitution located in exon 1 of the ge ...

and

rs7997012 In genetics, rs7997012 is a gene variation—a single nucleotide polymorphism (SNP)—in intron 2 of the human HTR2A gene that codes for the 5-HT2A receptor. The SNP varies between adenine (A) and guanine (G) DNA bases with the G-allele being most ...

are other investigated SNPs in the ''HTR2A'' gene.

References

SNPs on chromosome 13 {{genetics-stub