Variant position: 239 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 251 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 MASDPLGVVRGGRVNTHAGG TGPEGCRPFAKFI
Mouse AASDPLGVLRRGRGDARGGA GGADRCRPFPRFV
Rat AASDPLGVLRRGRGDARRGA GGTDRCRPFPRFV
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
25 – 251 Fibroblast growth factor 23
180 – 251 Fibroblast growth factor 23 C-terminal peptide
Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23.
White K.E.; Evans W.E.; O'Riordan J.L.H.; Speer M.C.; Econs M.J.; Lorenz-Depiereux B.; Grabowski M.; Meitinger T.; Strom T.M.;
Nat. Genet. 26:345-348(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; FUNCTION; VARIANTS ADHR GLN-176; GLN-179 AND TRP-179; VARIANT MET-239;
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS SER-195 AND MET-239;
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.