Variant position: 727 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1078 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 EAKIPTSFHRKWWGLNLQFL LVFLCTFMQIVICVIWLYTAP
Mouse EAKIPTSFHRKWWGLNLQFL LVFLCTFMQIVICIIWLYTAP
Rat EAKIPTSFHRKWWGLNLQFL LVFLCTFMQILICIIWLYTAP
Pig EAKIPTSFHRKWWGLNLQFL LVFLCTFMQIVICAIWLYTAP
Bovine EAKIPTSFHRKWWGLNLQFL LVFLCTFMQIVICAIWLNTAP
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
20 – 1078 Extracellular calcium-sensing receptor
725 – 745 Helical; Name=4
A hypocalcemic child with a novel activating mutation of the calcium-sensing receptor gene: successful treatment with recombinant human parathyroid hormone.
Mittelman S.D.; Hendy G.N.; Fefferman R.A.; Canaff L.; Mosesova I.; Cole D.E.; Burkett L.; Geffner M.E.;
J. Clin. Endocrinol. Metab. 91:2474-2479(2006)
Cited for: VARIANT HYPOC1 GLN-727; CHARACTERIZATION OF VARIANT HYPOC1 GLN-727;
CASR gene activating mutations in two families with autosomal dominant hypocalcemia.
Guarnieri V.; Valentina D'Elia A.; Baorda F.; Pazienza V.; Benegiamo G.; Stanziale P.; Copetti M.; Battista C.; Grimaldi F.; Damante G.; Pellegrini F.; D'Agruma L.; Zelante L.; Carella M.; Scillitani A.;
Mol. Genet. Metab. 107:548-552(2012)
Cited for: VARIANTS HYPOC1 LEU-221; ARG-681 AND GLN-727; FUNCTION; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS HYPOC1 ARG-681 AND GLN-727;
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.