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Literature summary for 3.1.3.1 extracted from

  • Brun-Heath, I.; Taillandier, A.; Serre, J.L.; Mornet, E.
    Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations (2005), Mol. Genet. Metab., 84, 273-277.
    View publication on PubMed

Protein Variants

Protein Variants Comment Organism
A16V in combination with P275T the mutation causes infantile hypophosphatasia, 7.2% of wild-type activity Homo sapiens
M278T lethal mutation, 8.5% of wild-type activity Homo sapiens
additional information characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations Homo sapiens
P275T in combination with A16V mutation causes infantile hypophosphatasia, 4% of wild-type activity Homo sapiens
R119H in combination with Y280D the mutation causes childhood hypophosphatasia, 33.4% of wild-type activity Homo sapiens
R206W lethal mutation, 2.8% of wild-type activity Homo sapiens
R255H mutation (homozygote) causes infantile hypophosphatasia, 6.8% of wild-type activity Homo sapiens
T394 lethal mutation, 0.3% of wild-type activity Homo sapiens
Y280D in combination with R119H the mutation causes childhood hypophosphatasia, 1.3% of wild-type activity Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Homo sapiens hypophosphatasia is an inherited disorder caused by mutations in the bone alkaline phosphatase gene ?
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Organism

Organism UniProt Comment Textmining
Homo sapiens
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Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information hypophosphatasia is an inherited disorder caused by mutations in the bone alkaline phosphatase gene Homo sapiens ?
-
?