Variant position: 858 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2221 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 PNPETTGEEDEEEPEMPVGP RPRPLSELHLKEKAVPMPEAS
Mouse SNPDTAGEEDEEEPEMPVGP RPRPLSELHLKEKAVPMPEAS
Rat SNPDTAGEEDEEEPEMPVGP RPRPLSELHLKEKAVPMPEAS
Rabbit PNPETTGEEDEEEPEMPVGP RPRPLSELHLKEKAVPMPEAS
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
1 – 2221 Voltage-dependent L-type calcium channel subunit alpha-1C
746 – 900 Cytoplasmic
829 – 876 Interaction with STAC2
Long QT syndrome type 8: novel CACNA1C mutations causing QT prolongation and variant phenotypes.
Fukuyama M.; Wang Q.; Kato K.; Ohno S.; Ding W.G.; Toyoda F.; Itoh H.; Kimura H.; Makiyama T.; Ito M.; Matsuura H.; Horie M.;
Cited for: VARIANTS LQT8 SER-381; ILE-456; ASP-582; HIS-858 AND CYS-1831; CHARACTERIZATION OF VARIANTS LQT8 SER-381; ILE-456; ASP-582; HIS-858 AND CYS-1831; FUNCTION; SUBUNIT; SUBCELLULAR LOCATION; INTERACTION WITH CACNB2 AND CACNA2D1;
Penetrance and expressivity of the R858H CACNA1C variant in a five-generation pedigree segregating an arrhythmogenic channelopathy.
Gardner R.J.M.; Crozier I.G.; Binfield A.L.; Love D.R.; Lehnert K.; Gibson K.; Lintott C.J.; Snell R.G.; Jacobsen J.C.; Jones P.P.; Waddell-Smith K.E.; Kennedy M.A.; Skinner J.R.;
Mol. Genet. Genomic Med. 7:E00476-E00476(2019)
Cited for: VARIANT LQT8 HIS-858;
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