Table 1.

PCSK9 allelic variants with known functional property.

Functional domain	DNA allele	Mutation	Function	Ref.
5′UTR, 2.5-fold increase of transcriptional activity	C−332A		Gain	[71]
Signal peptide	G10A	Val4Ile	Gain	[72, 73]
Prodomain	G94A	Glu32Lys	Gain	[73]
Prodomain	A161C	Glu54Ala	Gain	[73]
Generation of a truncated peptide (Ala68fsLeu82X)	202del G	Ala68ProfsX15	Loss	[74]
Prodomain	C230T	Thr77Ile	Loss	[74]
Prodomain	C277T	Arg93Cys	Loss	[73]
Prodomain	290–292del GCC	Arg97del	Loss	[75]
Prodomain	C310T	Arg104Cys	Gain	[73]
Prodomain	G316A	Gly106Arg	Loss	[76]
Prodomain	T341C	Val114Ala	Loss	[74, 77]
Prodomain	T381A	Ser127Arg	Gain	[39, 78, 79]
Prodomain	G385A	Asp129Asn	Gain	[74]
Prodomain	A386G	Asp129Gly	Gain	[78]
Generation of a truncated peptide	C426G	Tyr142X	Loss	[80]
Catalytic	C503A	Ala168Glu	No effect	[78]
Catalytic	G644A	Arg215His	Gain	[79]
Catalytic	T646C	Phe216Leu	Gain	[39]
Catalytic	A654T	Arg218Ser	Gain	[81]
Catalytic	C655G	Gln219Glu	Loss	[73]
Catalytic	G706A	Gly236Ser	Loss	[79]
Catalytic	C716A	Ala239Asp	Loss	[73]
Catalytic	C757T	Leu253Phe	Loss	[82]
Catalytic	A1061T	Asn354Ile	Loss	[79]
Catalytic	G1070A	Arg357His	Gain	[81]
Catalytic	G1120T	Asp374Tyr	Gain	[40, 83, 84]
Catalytic	G1120C	Asp374His	Gain	[85]
Catalytic	C1171A	His391Asn	Loss	[82]
Catalytic	A1274G	Asn425Ser	Gain	[82, 86]
Catalytic	G1284A	Trp428X	Loss	[73]
C-terminal domain	C1300T	Arg434Trp	Loss	[87]
C-terminal domain	G1355A	Gly452Asp	Loss	[73]
Disrupts normal folding of the C-terminal domain	T1384C	Ser462Pro	Loss	[79]
C-terminal domain	C1405T	Arg469Trp	Gain	[81, 82]
C-terminal domain	C1486T	Arg496Trp	Gain	[86]
C-terminal domain	G1540A	Ala514Thr	Gain	[73]
C-terminal domain	G1564A	Ala522Thr	Gain	[74]
C-terminal domain	A1658G	His553Arg	Gain	[82]
C-terminal domain	C1660G	Gln554Glu	Loss	[82]
C-terminal domain	C1847T	Pro616Leu	Loss	[74]
C-terminal domain	G1870A	Val624Met	Gain	[73]
C-terminal domain	C2004A	Ser668Arg	Loss	[73]
Generation of a truncated peptide retained in the ER	C2037A	Cys679X	Loss	[80]