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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q13936: Variant p.Arg518Cys

Voltage-dependent L-type calcium channel subunit alpha-1C
Gene: CACNA1C
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Variant information Variant position: help 518 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Arginine (R) to Cysteine (C) at position 518 (R518C, p.Arg518Cys). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In TS; only with cardiac manifestation; decreased current density; associated with slower inactivation; altered localization; increase in late calcium current. Any additional useful information about the variant.


Sequence information Variant position: help 518 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 2221 The length of the canonical sequence.
Location on the sequence: help SKSKFSRYWRRWNRFCRRKC R AAVKSNVFYWLVIFLVFLNT 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         SKSKFSRYWRRWNRFCRRKCRAAVKSNVFYWLVIFLVFLNT

Mouse                         SKSKFSRYWRRWNRFCRRKCRAAVKSNVFYWLVIFLVFLNT

Rat                           SKSKFSRYWRRWNRFCRRKCRAAVKSNVFYWLVIFLVFLNT

Rabbit                        SKSKFSRYWRRWNRFCRRKCRAAVKSNVFYWLVIFLVFLNT
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 2221 Voltage-dependent L-type calcium channel subunit alpha-1C
Topological domain 402 – 524 Cytoplasmic
Repeat 510 – 756 II



Literature citations
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; TRANSPORTER ACTIVITY; Characterization of the CACNA1C-R518C Missense Mutation in the Pathobiology of Long-QT Syndrome Using Human Induced Pluripotent Stem Cell Cardiomyocytes Shows Action Potential Prolongation and L-Type Calcium Channel Perturbation.
Estes S.I.; Ye D.; Zhou W.; Dotzler S.M.; Tester D.J.; Bos J.M.; Kim C.S.J.; Ackerman M.J.;
Circ. Genom. Precis. Med. 12:e002534-e002534(2019)
Cited for: VARIANT TS CYS-518; CHARACTERIZATION OF VARIANT TS CYS-518; FUNCTION; TRANSPORTER ACTIVITY;
Disclaimer: 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.