Table 1 PCSK9 rare variants identified and characteristics of carrier patients.

From: Identification and in vitro characterization of two new PCSK9 Gain of Function variants found in patients with Familial Hypercholesterolemia

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)19,20,21

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

  1. *Minor Allele Frequency according to exome/genome databases (ExAC: Exome Aggregation Consortium; gnomAD: Genome Aggregation Database; EVS: Exome Variant Server; 1 kG: 1000 Genomes).
  2. †NF = Not found.
  3. ‡Biochemical values evaluated during a very restrictive diet.
  4. §The patient also carries the LDLR variant p.(Leu446Val) that does not cause alteration of LDLR activity.
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