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. 2017 Nov 10;7:15282. doi: 10.1038/s41598-017-15543-x

Table 1.

PCSK9 rare variants identified and characteristics of carrier patients.

Patient ID Nucleotide substitution Protein change Variant ID, MAF* and reference Total cholesterol (mmol/L) LDL cholesterol (mmol/L) HDL cholesterol (mmol/L) Triglycerides (mmol/L) Age (years) Sex
FH-1 c.103 G > T p.(Asp35Tyr) rs764603059; gnomAD: 0.00001; NF ExAC, EVS, 1 kG16 8.7 5.8 1.9 2.2 21 Female
FH-2 c.991 C > G p.(Pro331Ala) NF ExAC, gnomAD, EVS, 1 kG 7.7 4.8 2.4 55 Female
FH-3 c.1069 C > T p.(Arg357Cys) rs148562777; ExAC: 0.00015; gnomAD: 0.00015; EVS: 0.0002; NF 1 kG 4.6 2.9 1.3 0.8 9 Male
FH-4 c.1394 C > T p.(Ser465Leu) rs778849441; gnomAD: 0.00002; NF ExAC, EVS, 1 kG17,18 11.6 8.4 1.5 3.7 65 Female
FH-5 c.1405 C > T p.(Arg469Trp) rs141502002; ExAC:0.0007 (0.007 in African; 0.0003 in others); gnomAD: 0.00087 (0.009 in African; 0.0005 in others); EVS: 0.0027 (only African/American); 1 kG: 0.0018 (only African)1921 5.0 3.2 1.5 0.4 8 Female
FH-6§ c.1906A > C p.(Ser636Arg) NF ExAC, gnomAD, EVS, 1 kG 9.4 6.6 2.0 1.8 21 Female
FH-7 c.1928A > G p.(His643Arg) NF ExAC, gnomAD, EVS, 1 kG 7.4 5.4 1.4 1.2 30 Male

*Minor Allele Frequency according to exome/genome databases (ExAC: Exome Aggregation Consortium; gnomAD: Genome Aggregation Database; EVS: Exome Variant Server; 1 kG: 1000 Genomes).

NF = Not found.

Biochemical values evaluated during a very restrictive diet.

§The patient also carries the LDLR variant p.(Leu446Val) that does not cause alteration of LDLR activity.