CACNA1S
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
CACNA1S (HGNC:1397) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
calcium voltage-gated channel subunit alpha1 S
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
HOKPP, MHS5, CACNL1A3
Alias symbols
Cav1.1, hypoPP
%HI
25.88(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.65(Read more about gnomAD LOEUF score)
Cytoband
1q32.1
Genomic Coordinates
GRCh37/hg19: chr1:201008640-201081554 NCBI Ensembl UCSC
GRCh38/hg38: chr1:201039512-201112426 NCBI Ensembl UCSC
MANE Select Transcript
NM_000069.3 ENST00000362061.4 (Read more about MANE Select)
Function
Pore-forming, alpha-1S subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents in skeletal muscle. Calcium channels containing the alpha-1S subunit play an important role in excitation-contraction coupling in skeletal muscle via their interaction with RYR1, which triggers Ca(2+) release from the sarcoplasmic reticulum and ultimately results in muscle contraction. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. {ECO:000026... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-25627
ClinGen Curation ID:
CCID:006778
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
01/18/2016

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
CACNA1S encodes for the alpha-1-subunit, L-type of human skeletal muscle dihydropyridine-sensitive, voltage-dependent calcium channel. Mutations in this gene account for approximately 60% of cases of hypokalemic periodic paralysis (HOKPP) which is inherited in an autosomal dominant manner. All reported mutations have been single-nucleotide substitutions. Penetrance is reduced, but mutation-positive males are clinically affected more often than mutation-positive females. Mutations also can be associated with malignant hyperthermia susceptibility (MHS). There is no current evidence for haploinsufficiency as a disease-causing mechanism.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000001.10) (NC_000001.11)