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 | 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 | ? | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
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 | ? | - |
? |