log inhelp

 | 

  • If you are citizen of an European Union member nation, you may not use this service unless you are at least 16 years old.

  • Whenever you search in PBworks or on the Web, Dokkio Sidebar (from the makers of PBworks) will run the same search in your Drive, Dropbox, OneDrive, Gmail, Slack, and browsed web pages. Now you can find what you're looking for wherever it lives. Try Dokkio Sidebar for free.

View
 

MTHFR

This version was saved 13 years, 3 months ago View current version     Page history
Saved by Administrator
on February 7, 2010 at 10:18:08 am
 

DIYgenomics citizen science experiments - MTHFR mutations and Vitamin B12 deficiency

Back to DIYgenomics

 

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
       
       

 

2. Phenotype: Vitamin B12 deficiency

Existing studies and other research

 

 

 

 

 

Comments (0)

You don't have permission to comment on this page.

Printable version