ALFRED: allele frequency database

The ALlele FREquency Database
ALFRED is a resource of gene frequency data on human populations
supported by the U. S. National Science Foundation.

ALFRED detailed record information

Polymorphism Information

Name	ALFRED UID	Locus Name	Locus Symbol
C677T	SI001032G	5,10-methylenetetrahydrofolate reductase (NADPH)	MTHFR

Fst	Avg Het	# Populations Typed
0.11	0.341	147

Synonyms: rs1801133 ; Ala222Val ;
Frequency Display Formats:

Estimated Heterozygosity:

Frequency Download:

External Resources: dbSNP ss# Record GenBank sequence Record PharmGKB Variant Information Record
References: See References
Polymorphism Description: This common 677C->T point mutation creates a HinfI recognition site and leads to the substitution of Valine residue for Alanine at codon 222 in the binding region of the FAD co-factor (flavine-adenine-dinucleotide). The TT genotype was found to be associated with increased homocysteine level compared to the CC individuals.

This polymorphism has been considered as a genetic marker for different multifactorial states, including cardiovascular diseases, venous thromboses, neural tube defects, hemicrania, preeclampsia, diabetes mellitus type 2, detachment of placenta, habitual miscarriage, schizoprenia, Alzheimer's disease, invasive cervical carcinoma, acute leucosis and others.

Alleles:

Allele Name	Allele Symbol	Description
C	C	5'-aggtgtctgcggga GCC gatttcatcatcacgcagc-3'
T	T	5'-aggtgtctgcggga GTC gatttcatcatcacgcagc-3'

References:
- Zhang G, Dai C. "Gene polymorphisms of homocysteine metabolism-related enzymes in Chinese patients with occlusive coronary artery or cerebral vascular diseases". Thromb Res. 104:187-95. . (2001) 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