'CAV3 - LQT9

Link to:

External links: OMIM 601253** - Gene - cDNA (transcript variant 1 - longer) - Protein

*OMIM entry available only for the related allelic disorder: distal myopathy


 

Nucleotide
Change
Amino Acid Change
Mutation
Type
Comment
Phenotype
References
  V14L Missense mutation Increased late sodium current SIDS# Cronk LB et al. 2007
G166A G56S nonsyn. SNP     Vatta et al. 2006
  C72W nonsyn. SNP   SIDS Vatta et al. 2006; Arnestad et al 2007
233 C>T T78M* nonsyn. SNP not assessed in vitro Bordeline QT prolongation, non exertional syncope, sinus bradycardia; SIDS# Vatta et al. 2006; Cronk LB et al. 2007; Arnestad et al 2007
  L79R Missense mutation increased late sodium current SIDS# Cronk LB et al. 2007
253 G>A A85T Missense mutation no expressed in vitro Cardiac arrest during sleep Vatta et al. 2006
290 T>G F97C Missense mutation Increased late sodium current density Prolonged QT, nO symptoms Vatta et al. 2006
423C>G S141R Missense mutation Increased late sodium current density Prolonged QT, non exertional syncope Vatta et al. 2006

# SIDS = Sudden Infant Death Syndrome; * in one case this mutation was associated with a LQT2 mutation.