Table 1.
FH mutations identified in the study.
| Gene | DNA:Protein change | LDL-C of the carrier (mmol/L) (percentile) | TC of the carrier (mmol/L) (percentile) | Mutation Predictions |
||
|---|---|---|---|---|---|---|
| PolyPhen-2 | SIFT | Mutation Taster | ||||
| FH mutations | ||||||
| LDLR | c.680_681delAC:p.(Asp227Glyfs*12) | 6.48(99th) | 7.83(99th) | Frame shift mutation | ||
| c.722T > C:p.(Phe241Ser) | 4.47(99th) | 5.63(97th) | PD | NT | DC | |
| c.940G > A:p.(Gly314Arg) | 2.79(80th) | 4.61(72nd) | Likely to affect splicing | |||
| c.1897C > T:p.(Arg633Cys) | 5.36(99th) | 7.46(99th) | PD | NT | DC | |
| APOB | c.10580G > A:p.(Arg3527Gln) | 4.27(99th) | 6.38(99th) | PD | NT | DC |
| 4.52(99th) | 6.17(99th) | PD | NT | DC | ||
Full characteristics of the variant carriers are shown in Supplementary Table 2.
PD = probably damaging; PsD = possibly damaging; NT = not tolerated; T = tolerated; DC = disease causing; P = polymorphism.