Table 3.
Identified LDLR mutation in an Iranian patient with FH.
| ID | TC mmol/l | LDL-C mmol/l | Exon | Base pair change | Amino acid change | PolyPhen | SIFT | Mutation Taster | Reported FH causing | Country report |
|---|---|---|---|---|---|---|---|---|---|---|
| FH15-P | 18.6 | 13.0 | Exon 4 | c.389 C > G | p.(Ser130*) | N/A | N/A | N/A | 55 | Denmark |
| FH14-P | 16.5 | 15.0 | Exon 10 | c.1436 T > A | p.(Leu479Gln) | D | D | D | Novel | Iran |
| FH8-P | 21.7 | 19.4 | Exon 11 | c.1599 G > A | p.(Trp533*) | D | D | D | 56 | Subject originality unknown |
| FH1-P | 11.4 | 10.0 | Exon 12 | c.1729T > C | p.(Trp577Arg) | D | D | D | 25,26 | Turkey |
| FH2-P | 18.6 | 14.2 | ||||||||
| FH7-P | 22.5 | 17.5 | ||||||||
| FH17-P | 15.3 | 13.6 | Exon 14 | c.2001_2002delinsGT | p.(Cys667Trp) | D | D | D | 57 | France |
| p.(Glu668*) | N/A | N/A | N/A | Novel | Iran | |||||
| FH3-P | 21.5 | 16.1 | Exon 17 | c.2146dupG | p.(Val806Glyfs*11) | N/A | N/A | N/A | 28,29,30,31 and 32 | US, Sweden, Czech, Nether-lands, Japan |
| FH5-P | 15.5 | 7.8 |
D: Deleterious, P: Possibly damaging, B: Benign, N/A: not applicable.