Sequence information
Variant position: 767 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:
PPSSYRNQELEDEIIFITCH
E GSLMALGFLIGYTCLLAAIC
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 PPSSYRNQELEDEIIFITCHE GSLMALGFLIGYTCLLAAIC
Mouse PPSSYRNHELEDEIIFITCHE GSLMALGSLIGYTCLLAAIC
Rat PPSSYRNHELEDEIIFITCHE GSLMALGSLIGYTCLLAAIC
Pig PPSSYRNHELEDEIIFITCHE GSLMALGFLIGYTCLLAAIC
Bovine PPSSYRNHELEDEIIFITCHE GSLMALGFLIGYTCLLAAIC
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
746 – 769
Extracellular
Literature citations
A novel mutation (E767K) in the second extracellular loop of the calcium sensing receptor in a family with autosomal dominant hypocalcemia.
Uckun-Kitapci A.; Underwood L.E.; Zhang J.; Moats-Staats B.;
Am. J. Med. Genet. A 132:125-129(2005)
Cited for: VARIANT HYPOC1 LYS-767; VARIANT GLY-990;
Disclaimer:
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