'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
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Change |
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Mutation
Type |
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References
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| 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.