Nucleotide changes identified by SSCP or direct sequencing (for exon 1) in PCSK9 in 156 patients with familial hypercholesterolaemia with no detected LDLR or APOB mutation
| Fragment | Position | Sequence variant | Amino acid | Allele frequency* | rs number | |
|---|---|---|---|---|---|---|
| These sequence variants are numbered according to Ensemble Transcript ID:ENST00000302118 reference sequence, with A of the ATG translation initiation codon being nucleotide 1. All variants are reported previously.17,22,28 | ||||||
| *Frequency observed in the 156 patients screened. | ||||||
| Ex1 | Exon 1 5′UTR | c.-64C→T | – | 0.110 | – | |
| Exon 1 | c.42_43insCTG | p.15_16insL | 0.120 | – | ||
| Exon 1 | c.137G→T | – | 0.004 | |||
| Exon 1 | c.141C→T | p.S47S | 0.004 | – | ||
| Exon 1 | c.158C→T | p.A53V | 0.110 | rs11583680 | ||
| Intron 1 | c.207+15G→A | – | 0.050 | rs2495482 | ||
| Ex2 | None found | |||||
| Ex3 | None Found | |||||
| Ex4 | Intron 3 | c.524–11G→A | – | 0.040 | – | |
| Intron 4 | c.657+9G→A | – | 0.040 | – | ||
| Ex5 | Intron 4 | c.658–7C→T | – | 0.320 | rs2483205 | |
| Intron 5 | c.799+3A→G | – | 0.320 | rs2495477 | ||
| Ex6 | None found | |||||
| Ex75′ | Exon 7 | c.1035G→A | p.P345P | 0.003 | – | |
| Ex73′ | Exon 7 | c.1120G→T | p.D374Y | 0.020 | – | |
| Ex8 | None found | |||||
| Ex9 | Exon 9 | c.1380G→A | p.V460V | 0.090 | rs540796 | |
| Exon 9 | c.1420A→G | p.I474V | 0.090 | rs562556 | ||
| Ex10 | None found | |||||
| Ex11 | None found | |||||
| Ex12 | Exon 12 | c.2009A→G | p.E670G | 0.055 | rs505151 | |