Table 3

 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

FragmentPositionSequence variantAmino acidAllele 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.
Ex1Exon 1 5′UTRc.-64C→T0.110
Exon 1c.42_43insCTGp.15_16insL0.120
Exon 1c.137G→T0.004
Exon 1c.141C→Tp.S47S0.004
Exon 1c.158C→Tp.A53V0.110rs11583680
Intron 1c.207+15G→A0.050rs2495482
Ex2None found
Ex3None Found
Ex4Intron 3c.524–11G→A0.040
Intron 4c.657+9G→A0.040
Ex5Intron 4c.658–7C→T0.320rs2483205
Intron 5c.799+3A→G0.320rs2495477
Ex6None found
Ex75Exon 7c.1035G→Ap.P345P0.003
Ex73Exon 7c.1120G→Tp.D374Y0.020
Ex8None found
Ex9Exon 9c.1380G→Ap.V460V0.090rs540796
Exon 9c.1420A→Gp.I474V0.090rs562556
Ex10None found
Ex11None found
Ex12Exon 12c.2009A→Gp.E670G0.055rs505151