EC Number   |
Protein Variants |
Reference |
|---|
   3.4.24.B15 | C95X |
deletion in exon 2 of the PHEX gene 177delC results in a premature stop codon (C59X), suggesting an inactivating truncation of the PHEX protein |
682100 |
| 3.4.24.B15 | E581V |
site-directed mutagenesis, soluble secreted mutant secPHEXE581V, inactive |
649704 |
| 3.4.24.B15 | K496X |
mice carrying a point mutation in exon 14 of the Phex gene that introduces a stop codon at amino acid 496 of the coding sequence exhibit the classic clinical manifestations of XLH, including growth retardation, skeletal abnormalities (rickets/osteomalacia), hypophosphatemia, and increased serum alkaline phosphatase levels |
734358 |
| 3.4.24.B15 | K496X |
mutant mice have increased Fgf23 expression and reduced proteolytic cleavage of intact Fgf23 protein, resulting in markedly elevated intact Fgf23 levels and consequent hypophosphatemia |
734347 |
| 3.4.24.B15 | L206W |
missense mutation responsible for X-linked hypophosphatemic rickets |
682099 |
| 3.4.24.B15 | more |
a frameshift mutation (nucleotide 1826-1830delAAAAG, stop after codon 610) in exon 18 is responsible for X-linked hypophosphatemic rickets |
682099 |
| 3.4.24.B15 | more |
construction of an active soluble secreted mutant enzyme form secPHEX, enzyme mutations are responsible for X-chromosome linked hypophosphataemia |
649704 |
| 3.4.24.B15 | more |
construction of an inactive C-terminal deletion mutant of the enzyme |
649604 |
| 3.4.24.B15 | more |
construction of C-terminally truncated enzyme version |
649294 |
| 3.4.24.B15 | more |
creation and analysis of splice-site mutations. Among 22 splice-site mutations, exon skipping accounts for 73% (16/22). Non-canonical splice-site mutations can result in splicing errors to the same extent as canonical splice-site mutations such as c.436+3G>C, c.436+4A>C, c.436+6T>C, c.437-3C>G, c.850-3C>G, c.1080-3C>A, c.1482+5G>C, c.1586+6T>C, c.1645+5G>A, c.1645+6T>C, c.1701-16T>A, c.1768+5G>A, and c.1899+5G>A. Non-canonical (c.436+6T>C and c.1586+6T>C) and canonical splice-site mutations (c.1769-1G>C) can generate partial splicing errors (both wild-type and mutant transcripts are detected), resulting in incomplete inactivation of PHEX gene. Mutation c.1645C>T (p.R549*) has no impact on pre-mRNA splicing |
753113 |
