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MTHFR

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on February 7, 2010 at 10:06:21 am
 

DIYgenomics citizen science experiments - MTHFR mutations and Vitamin B12 deficiency

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1. Gene mutation: MTHFR

 (

Methylenetetrahydrofolate_reductase)

The MTHFR nucleotide at position 677 in the gene has two possibilities: C (cytosine) or T (thymine). C at position 677 (leading to an alanine at amino acid 222) is the normal allele. The 677T allele (leading to a valine substitution at amino acid 222) encodes a thermolabile enzyme with reduced activity. (Source: wikipedia: MTHFR

)

 

Individual with two copies of 677C (677CC) have the "normal" or "wildtype" genotype. 677TT individuals (homozygous) are said to have mild MTHFR deficiency

 

               Chr/Locus:      Gene:      SNP:      Location:      Genotype values (23andme)

               1p36.3               C677T

rs1801133       1          11778965        AG

 

1p36.3

A1298C

rs1801131       1          11777063        GT

 

 

 

 

 

 

Contact: m AT melanieswan.com

 

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