Disease causing gene mutations identified in Australian hypertrophic cardiomyopathy probands
| Family | Mutation | Exon | Gene | Status | ||||
|---|---|---|---|---|---|---|---|---|
| *Indicates those mutations found in the compound and double heterozygotes. | ||||||||
| β-MHC, β-myosin heavy chain; cTnI, cardiac troponin I; cTnT, cardiac troponin T; MyBP-C, myosin binding protein C. | ||||||||
| U, AW | Lys146Asn | 5 | β-MHC | Novel | ||||
| CT | Val186Leu | 7 | β-MHC | Novel | ||||
| AA | Val606Met | 16 | β-MHC | Known | ||||
| AF, AS | Arg663His | 18 | β-MHC | Known | ||||
| V | Val698Ala | 19 | β-MHC | Novel | ||||
| C | Arg719Gln* | 19 | β-MHC | Known | ||||
| AH | Arg723Cys | 20 | β-MHC | Known | ||||
| AN | Ile736Thr | 20 | β-MHC | Novel | ||||
| L | Ala742Glu | 20 | β-MHC | Novel | ||||
| BA | Gly1057Asp | 25 | β-MHC | Novel | ||||
| C | Arg273His* | 8 | MyBP-C | Novel | ||||
| O, AI | Arg326Gln* | 13 | MyBP-C | Known | ||||
| BS | Arg502Trp | 18 | MyBP-C | Known | ||||
| G | Glu542Gln* | 18 | MyBP-C | Known | ||||
| CE | Ivs18+4A→T | Intronic | MyBP-C | Novel | ||||
| D | Asp745Gly* | 24 | MyBP-C | Novel | ||||
| CR | Ivs24+1G→A | Intronic | MyBP-C | Novel | ||||
| G | Ala851Val* | 26 | MyBP-C | Novel | ||||
| D | Pro873His* | 27 | MyBP-C | Known | ||||
| O | Gln1233Ter* | 34 | MyBP-C | Known | ||||
| AZ | Arg162Pro | 7 | cTnI | Known | ||||
| X | Arg162Gln | 7 | cTnI | Known | ||||
| J | Arg204His | 8 | cTnI | Known | ||||
| AK | Arg278Cys | 16 | cTnT | Known | ||||