Sequence information
Variant position: 616 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:
TSCIAKEIEFLSWTEPFGIA
L TLFAVLGIFLTAFVLGVFIK
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 TSCIAKEIEFLSWTEPFGIAL TLFAVLGIFLTAFVLGVFIK
Mouse TSCIAKEIEFLAWTEPFGIAL TLFAVLGIFLTAFVLGVFIK
Rat TSCIAKEIEFLAWTEPFGIAL TLFAVLGIFLTAFVLGVFIK
Pig TSCIAKEIEFLSWTEPFGIAL TLFAVLGIFLTAFVLGVFIK
Bovine TSCIAKEIEFLSWTEPFGIAL TLFAVLGIFLTAFVLGVFIK
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
Transmembrane
613 – 635
Helical; Name=1
Helix
611 – 636
Literature citations
Autosomal dominant hypoparathyroidism associated with short stature and premature osteoarthritis.
Stock J.L.; Brown R.S.; Baron J.; Coderre J.A.; Mancilla E.; De Luca F.; Ray K.; Mericq M.V.;
J. Clin. Endocrinol. Metab. 84:3036-3040(1999)
Cited for: VARIANT HYPOC1 VAL-616; CHARACTERIZATION OF VARIANT HYPOC1 VAL-616;
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.