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Literature summary for 1.5.1.20 extracted from

  • Boettiger, A.K.; Hurtig-Wennloef, A.; Sjoestroem, M.; Yngve, A.; Nilsson, T.K.
    Association of total plasma homocysteine with methylenetetrahydrofolate reductase genotypes 677C>T, 1298A>C, and 1793G>A and the corresponding haplotypes in Swedish children and adolescents (2007), Int. J. Mol. Med., 19, 659-665.
    View publication on PubMed

Protein Variants

Protein Variants Comment Organism
A222V the major genetic impact on total plasma homocysteine concentrations is attributable to the MTHFR mutation A222V Homo sapiens
E429A the mutation has a minor elevating effect on total plasma homocysteine concentration Homo sapiens
additional information the G1793A gene polymorphism has a lowering effect on total plasma homocysteine Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
blood
-
Homo sapiens
-

Synonyms

Synonyms Comment Organism
methylenetetrahydrofolate reductase
-
Homo sapiens
MTHFR
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Homo sapiens