ALFRED detailed record information
Synonyms: rs1801133 ; Ala222Val ;
|Fst||Avg Het||# Populations Typed|
Frequency Display Formats:
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.
|Allele Name||Allele Symbol||Description|
|C||C||5'-aggtgtctgcggga GCC gatttcatcatcacgcagc-3'|
|T||T||5'-aggtgtctgcggga GTC gatttcatcatcacgcagc-3'|
- 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
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