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Table 2 Genetic mutations carried by the proband

From: Novel trigenic CACNA1C/DES/MYPN mutations in a family of hypertrophic cardiomyopathy with early repolarization and short QT syndrome

  Position Sequence Protein DNA changes AA changes MutationTaster2 Polyphen2 PROVEAN
CACNA1C chr12-2797746 NM_000719 Q13936 c.5918G>C p.R1973P Disease causing (prob: 0.999) Possibly damaging (score: 0.887) Deleterious (score: −3.153)
DES chr2-220285033 NM_001927 P17661 c.700G>A p.E234K Disease causing (prob: 0.999) Probably damaging (score 0.999) Deleterious (score: −3.292)
MYPN chr10-69970097 NM_001256268 NP_001243197.1 c.2966G>A p.R989H Disease causing (prob: 0.999) Probably damaging (score 1.000) Deleterious (score: −2.693)