|Name||ALFRED UID||Locus Name||Locus Symbol|
|exon 4 Val158Met (NlaIII codon 158)||SI000155L||Catechol-O-methyltransferase||COMT|
|Fst||Avg Het||# Populations Typed|
External Resources: HGVbase Site Definition Record Typing Protocol Record GenBank sequence Record dbSNP ss# Record PharmGKB Variant Information Record
References: See References
Polymorphism Description: A single base pair change (G to A) in exon 4 of the COMT gene, at position 472 in the long mRNA, and 322 in the short mRNA, results in an amino acid change (Val to Met), at codon 158 of MB-COMT and codon 108 of S-COMT, that decreases the activity level of COMT enzyme 3 to 4 fold. In addition to being a functional polymorphism, this SNP also creates a polymorphic NlaIII restriction site in the DNA sequence of the gene. The two alleles are referred to as COMT*H, the site-absent (G; Val) allele that encodes the thermostable, high activity enzyme and COMT*L, the site-present (A; Met) allele that encodes the low activity enzyme.
Some frequencies vary from those in the manuscript as a few related individuals are included.
Ancestral Allele: Site Absent
Ancestral Allele Determine by: Sequence on primate DNA
|Allele Name||Allele Symbol||Description|
|A||A||Cutting allele codes for low activity enzyme: 5'-ggatttcgctgg C A TG aaggacaaggt-3'|
|G||G||Non-cutting allele codes for high activity enzyme: 5'-ggatttcgctgg C G TG aaggacaaggt-3'|
- Daniels JK, Williams NM, Williams J, Jones LA, Cardno AG, Murphy KC, Spurlock G, Riley B, Scambler P, Asherson P, McGuffin P, Owen MJ. "No evidence for allelic association between schizophrenia and a polymorphism determining high or low catechol O-methyltransferase activity". Am J Psychiatry 153:268-70. (1996) Online citation.
- DeMille MM, Kidd JR, Ruggeri V, Palmatier MA, Goldman D, Odunsi A, Okonofua F, Grigorenko E, Schulz LO, Bonne-Tamir B, Lu RB, Parnas J, Pakstis AJ, Kidd KK. "Population variation in linkage disequilibrium across the COMT gene considering promoter region and coding region variation". Human Genetics 111:521-537. (2002) Online citation.
- Palmatier MA, Kang AM, Kidd KK. "Global variation in the frequencies of functionally different catechol-O-methyltransferase alleles". Biol. Psychiatry. 46:557-67. (1999) Online citation.
© 2012 Kenneth K Kidd, Yale University. All rights reserved. The full Copyright Notification is also available.
Originally prototyped by Michael Osier with the aid of Kei Cheung
Upgrades and maintenance since 2002 by Haseena Rajeevan