Variant position: 530 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 749 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human RKYLAQSDFFWLRKAVPKTE WFTNPTTVNAFYSASTNQIRF
Mouse RKYLAQSDFFWLRKAVPKTE WFTNPTTVNAFYSASTNQIRF
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 749 Phosphate-regulating neutral endopeptidase
42 – 641 Extracellular
Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues.
Filisetti D.; Ostermann G.; von Bredow M.; Strom T.M.; Filler G.; Ehrich J.; Pannetier S.; Garnier J.-M.; Rowe P.S.N.; Francis F.; Julienne A.; Hanauer A.; Econs M.J.; Oudet C.L.;
Eur. J. Hum. Genet. 7:615-619(1999)
Cited for: VARIANTS XLHR SER-80; PHE-142; GLY-237; CYS-530; ASP-573; SER-733 AND TRP-746;
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