In genetics

Genetics

Genetics , a discipline of biology, is the science of genes, heredity, and variation in living organisms....

, rs6314, also called His452Tyr or H452Y, is a gene variation, a single nucleotide polymorphism

Single nucleotide polymorphism

A single-nucleotide polymorphism is a DNA sequence variation occurring when a single nucleotide — A, T, C or G — in the genome differs between members of a biological species or paired chromosomes in an individual...

 (SNP), in the HTR2A gene that codes for the 5-HT_2A receptor

5-HT2A receptor

The mammalian 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 . This is the main excitatory receptor subtype among the GPCRs for serotonin , although 5-HT2A may also have an inhibitory effect on certain areas such...

.
The SNP is located in exon 3 of the gene and the change between C and T results in a change between histidine

Histidine

Histidine Histidine, an essential amino acid, has a positively charged imidazole functional group. It is one of the 22 proteinogenic amino acids. Its codons are CAU and CAC. Histidine was first isolated by German physician Albrecht Kossel in 1896. Histidine is an essential amino acid in humans...

 (His) and tyrosine

Tyrosine

Tyrosine or 4-hydroxyphenylalanine, is one of the 22 amino acids that are used by cells to synthesize proteins. Its codons are UAC and UAU. It is a non-essential amino acid with a polar side group...

 (Tyr) at the 452nd amino acid

Amino acid

Amino acids are molecules containing an amine group, a carboxylic acid group and a side-chain that varies between different amino acids. The key elements of an amino acid are carbon, hydrogen, oxygen, and nitrogen...

, i.e., it is a missense substitution.

As 5-HT_2A is a neuroreceptor the SNP has been investigated in connection with neuropsychiatric disorders
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

In psychology, memory is an organism's ability to store, retain, and recall information and experiences. Traditional studies of memory began in the fields of philosophy, including techniques of artificially enhancing memory....

 performance in young adults.
This has been replicated by another group.

The His452Tyr variant may influence cell signaling

Cell signaling

Cell signaling is part of a complex system of communication that governs basic cellular activities and coordinates cell actions. The ability of cells to perceive and correctly respond to their microenvironment is the basis of development, tissue repair, and immunity as well as normal tissue...

.

rs6311

Rs6311

In genetics rs6311 is a gene variation—a single nucleotide polymorphism —in the human HTR2A gene that codes for the 5-HT2A receptor. 5-HT2A is neuroreceptor, and several scientific studies have investigated the effect of the genetic variation on personality, e.g., personality traits measured with...

, rs6313

Rs6313

In genetics, rs6313 also called T102C or C102T is a gene variation—a single nucleotide polymorphism —in the human HTR2A gene that codes for the 5-HT2A receptor....

 and rs7997012

Rs7997012

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

are other investigated SNPs in the HTR2A gene.