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
|
SNP
|
Location
|
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 |
|
|
|
|
|
|
|
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2. Phenotype: Vitamin B12 deficiency
Existing studies and other research
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