Variant position: 686 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 LFFIGEPQDWTCRLRQPAFG ISFVLCISCILVKTNRVLLVF
Mouse LFFIGEPQDWTCRLRQPAFG ISFVLCISCILVKTNRVLLVF
Rat LFFIGEPQDWTCRLRQPAFG ISFVLCISCILVKTNRVLLVF
Bovine LFFIGEPQDWTCRLRQPAFG ISFVLCISCILVKTNRVLLVF
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
682 – 700 Helical; Name=3
An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene.
Kapoor A.; Satishchandra P.; Ratnapriya R.; Reddy R.; Kadandale J.; Shankar S.K.; Anand A.;
Ann. Neurol. 64:158-167(2008)
Cited for: VARIANTS EIG8 ALA-354; VAL-686; GLN-898; VAL-988 AND GLY-988; VARIANTS SER-986 AND GLY-990; TISSUE SPECIFICITY;
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