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)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
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)