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Literature summary for 2.8.1.2 extracted from

  • Billaut-Laden, I.; Rat, E.; Allorge, D.; Crunelle-Thibaut, A.; Cauffiez, C.; Chevalier, D.; Lo-Guidice, J.M.; Broly, F.
    Evidence for a functional genetic polymorphism of the human mercaptopyruvate sulfurtransferase (MPST), a cyanide detoxification enzyme (2006), Toxicol. Lett., 165, 101-111.
    View publication on PubMed

Protein Variants

Protein Variants Comment Organism
additional information identification of two intronic polymorphisms and a nonsense mutation in the enzyme gene of 50 unrelated French individuals. The nonsense mutation Y85Stop likely results in a severely truncated protein without enzymatic activity Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
identification of functional genetic polymorphisms
-