Sequence information
Variant position: 681 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:
CFSSSLFFIGEPQDWTCRLR
Q PAFGISFVLCISCILVKTNR
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 CFSSSLFFIGEPQDWTCRLRQ PAFGISFVLCISCILVKTNR
Mouse CFSSSLFFIGEPQDWTCRLRQ PAFGISFVLCISCILVKTNR
Rat CFSSSLFFIGEPQDWTCRLRQ PAFGISFVLCISCILVKTNR
Pig CFSSSLFFIGEPQDWTCRLRQ PAFGISFVLCISCILVKTNR
Bovine CFSSSLFFIGEPQDWTCRLRQ PAFGISFVLCISCILVKTNR
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
Chain
20 – 1078
Extracellular calcium-sensing receptor
Topological domain
671 – 681
Extracellular
Helix
681 – 696
Literature citations
Mutations in the Ca(2+)-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism.
Baron J.; Winer K.K.; Yanovski J.A.; Cunningham A.W.; Laue L.; Zimmerman D.; Cutler G.B. Jr.;
Hum. Mol. Genet. 5:601-606(1996)
Cited for: VARIANTS HYPOC1 THR-116; HIS-681 AND SER-806; VARIANT SER-851;
Disclaimer:
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.