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Literature summary for 1.5.1.20 extracted from

  • Forges, T.; Chery, C.; Audonnet, S.; Feillet, F.; Gueant, J.L.
    Life-threatening methylenetetrahydrofolate reductase (MTHFR) deficiency with extremely early onset: characterization of two novel mutations in compound heterozygous patients (2010), Mol. Genet. Metab., 100, 143-148.
    View publication on PubMed
Search for more literature for 1.5.1.20

Protein Variants

Protein Variants Comment Organism
additional information analysis of two mutations in MTHFR gene in compound heterozygous patients with extremely low or undetectable enzyme activity. Mutation c.523G>A leads to an Ala>Thr transition in the catalytic domain of the enzyme, mutation c.1166G>A induces alternative splicing of exon 7 at the junction of the catalytic and regulatory domains. Both parents carry only one of these mutations and present with moderate and intermediate hyperhomocysteinemia, respectively, without neurological symptoms Homo sapiens

Molecular Weight [Da]

Molecular Weight [Da] Molecular Weight Maximum [Da] Comment Organism
70000
-
 x * 77000, SDS-PAGE, x * 70000, SDS-PAGE of MTHFR mutant c.523G>A or mutant c.1166G>A Homo sapiens
77000
-
 x * 77000, SDS-PAGE, x * 70000, SDS-PAGE of MTHFR mutant c.523G>A or mutant c.1166G>A Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Subunits

Subunits Comment Organism
? x * 77000, SDS-PAGE, x * 70000, SDS-PAGE of MTHFR mutant c.523G>A or mutant c.1166G>A Homo sapiens