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on February 7, 2010 at 10:18:08 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 or T. 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


Population prevalence: 30% (source).


Chr/Locus Gene
Genotype values Risk allele
1p36.3 C677T rs1801133  
11778965 CT T
1p36.3 A1298C rs1801131 11777063 


Study participant geneotyping data

Particpant SNP Genotype Genotyping service
Patient 0 rs1801133 AG 23andme-original edition
Patient 0 rs1801131 GT 23andme-original edition


2. Phenotype: Vitamin B12 deficiency

Existing studies and other research






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