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:
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 PPSSYRNQELEDEIIFITCH EGSLMALGFLIGYTCLLAAIC
Mouse PPSSYRNHELEDEIIFITCH EGSLMALGSLIGYTCLLAAIC
Rat PPSSYRNHELEDEIIFITCH EGSLMALGSLIGYTCLLAAIC
Pig PPSSYRNHELEDEIIFITCH EGSLMALGFLIGYTCLLAAIC
Bovine PPSSYRNHELEDEIIFITCH EGSLMALGFLIGYTCLLAAIC
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
746 – 769 Extracellular
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;
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