Variant position: 518 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 SKSKFSRYWRRWNRFCRRKC RAAVKSNVFYWLVIFLVFLNT
Mouse SKSKFSRYWRRWNRFCRRKC RAAVKSNVFYWLVIFLVFLNT
Rat SKSKFSRYWRRWNRFCRRKC RAAVKSNVFYWLVIFLVFLNT
Rabbit SKSKFSRYWRRWNRFCRRKC RAAVKSNVFYWLVIFLVFLNT
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
402 – 524 Cytoplasmic
510 – 756 II
Identification and functional characterization of a novel CACNA1C-mediated cardiac disorder characterized by prolonged QT intervals with hypertrophic cardiomyopathy, congenital heart defects, and sudden cardiac death.
Boczek N.J.; Ye D.; Jin F.; Tester D.J.; Huseby A.; Bos J.M.; Johnson A.J.; Kanter R.; Ackerman M.J.;
Circ. Arrhythm. Electrophysiol. 8:1122-1132(2015)
Cited for: VARIANTS TS CYS-518 AND HIS-518; CHARACTERIZATION OF VARIANTS TS CYS-518 AND HIS-518; FUNCTION; SUBCELLULAR LOCATION;
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.