Table 2.
Mutation characteristics.
| Pat. # | Mutation | Genetic Status | Mutation Type | Protein Consequence | Mutation Taster | PolyPhen |
|---|---|---|---|---|---|---|
| 1 | MYBPC3 (c.1358dupC) | Single heterozygous | Truncating | p.Val454CysfsX21 | Disease causing (1) | __ |
| 2 | MYBPC3 (c.1960C>T) | Single heterozygous | Missense | p.Arg654Cys | Disease causing (0.99) | Possibly damaging (0.843) |
| 3 | MYBPC3 (c.2308G>A) | Single heterozygous | Truncating | p.Asp770SerX98 | Disease causing (0.99) | Possibly damaging (0.953) |
| 4 | MYH7 (c.598G>C) | Single heterozygous | Missense | p.Ala200Pro | Disease causing (0.99) | Possibly damaging (0.842) |
| 5 | MYBPC3/FLNC (c.2234A>G; c.3004C>T) | Double heterozygous | Missense |
MYBPC3: p.Asp745Gly/pAsp745del25
FLNC: p.Arg1002Trp |
MYBPC3: Disease causing (0.99) FLNC: Disease causing (0.96) |
MYBPC3: Possibly damaging (0.826) FLNC: Benign: 0.022 |
| 6 | MYH7/LAMP2 (c.1988G>A; c.277G>A) | Double heterozygous | Missense |
MYH7: p.Arg663His
LAMP2: p.Gly93Arg |
MYH7: Disease causing (0.92) LAMP2: Disease causing (0.99) |
MYH7: Possibly damaging (0.628) LAMP2: Possibly damaging (0.844) |
| 7 | MYBPC3/MYH7 (c.1293C>T; c.1432A>G) | Double heterozygous | Missense |
MYBPC3: p.Asp431Asp
MYH7: p.Ile478Val |
MYBPC3: Disease causing (1) MYH7: Disease causing (0.99) |
MYBPC3: No data MYH7: Benign (0.002) |
ACTN2, Actinin Alpha 2; FLNC, Filamin C; LAMP2, Lysosome-associated membrane protein 2; MYBPC3, Myosin-binding protein C, cardiac-type; MYH7, Myosin heavy chain 7; for Mutation Taster/Poly Phen scores please refer to: http://www.mutationtaster.org, http://genetics.bwh.harvard.edu/pph2/.