Variant position: 253 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 EDYLDNSTEAKSYRDALYKF MVDTAVLLGANSSRAEHDMKS
Mouse EDFLDNTTEAKSYRDALYKF MVDTAVLLGANSSRAEHDMKS
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
238 – 238 N-linked (GlcNAc...)
263 – 263 N-linked (GlcNAc...)
Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets.
Holm I.A.; Huang X.; Kunkel L.M.;
Am. J. Hum. Genet. 60:790-797(1997)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS XLHR TYR-85; CYS-166; SER-252; ILE-253 AND VAL-579;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.