PMID: 27920219

The Proprotein Convertases in Hypercholesterolemia and Cardiovascular Diseases: Emphasis on Proprotein Convertase Subtilisin/Kexin 9.

Pharmacological reviews
NG Seidah, M Abifadel, S Prost, C Boileau, A Prat
2017-01

45 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55505520-G-A PCSK9 c.10G>A p.Val4Ile Missense 1/12 -
1-55523828-C-T PCSK9 c.1300C>T p.Arg434Trp Missense 8/12 -
11-66638932-A-G PC c.341T>C p.Val114Ala Missense 6/23 -
1-55518081-A-T PCSK9 c.654A>T p.Arg218Ser Missense 4/12 -
15-91416550-C-G FURIN c.1-2421C>G - IntronicSNV - 1/15
1-55518073-T-C PCSK9 c.646T>C p.Phe216Leu Missense 4/12 -
1-55505557-T-TTCT PCSK9 c.47_48insTCT p.Leu23dupLeu InFrameInsertion 1/12 -
1-55512252-G-C PCSK9 c.456G>C p.Gln152His Missense 3/12 -
1-55525315-C-G PCSK9 c.1660C>G p.Gln554Glu Missense 10/12 -
8-133879288-T-TCTG TG c.43_44insCTG p.Cys15delinsSergly MultiAAMissense 1/48 -
15-91416550-C-A FURIN c.1-2421C>A - IntronicSNV - 1/15
1-55505668-C-T PCSK9 c.158C>T p.Ala53Val Missense 1/12 -
1-55509631-T-G PCSK9 c.323T>G p.Leu108Arg Missense 2/12 -
1-55524237-G-A PCSK9 c.1420G>A p.Val474Ile Missense 9/12 -
1-55509520-C-T PCSK9 c.212C>T p.Pro71Leu Missense 2/12 -
1-55518071-G-A PCSK9 c.644G>A p.Arg215His Missense 4/12 -
11-66618724-GC-AG PC c.2009_2010delGCinsAG p.Gly670Glu Missense 17/23 -
1-55509689-T-A PCSK9 c.381T>A p.Ser127Arg Missense 2/12 -
1-55509618-C-T PCSK9 c.310C>T p.Arg104Cys Missense 2/12 -
1-55523874-A-T PCSK9 c.1346A>T p.His449Leu Missense 8/12 -
1-55505652-G-A PCSK9 c.142G>A p.Glu48Lys Missense 1/12 -
1-55525219-G-A PCSK9 c.1564G>A p.Ala522Thr Missense 10/12 -
1-55509694-A-G PCSK9 c.386A>G p.Asp129Gly Missense 2/12 -
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -
19-45411844-G-T APOE c.291G>T p.Glu97Asp Missense 4/4 -
1-55529215-C-A PCSK9 c.2037C>A p.Cys679* Nonsense 12/12 -
19-45411844-G-C APOE c.291G>C p.Glu97Asp Missense 4/4 -
1-55509624-G-A PCSK9 c.316G>A p.Gly106Arg Missense 2/12 -
1-55509624-G-C PCSK9 c.316G>C p.Gly106Arg Missense 2/12 -
1-55509693-G-A PCSK9 c.385G>A p.Asp129Asn Missense 2/12 -
1-55523811-G-A PCSK9 c.1283G>A p.Trp428* Nonsense 8/12 -
1-55527213-C-T PCSK9 c.1847C>T p.Pro616Leu Missense 11/12 -
1-55518422-C-T PCSK9 c.757C>T p.Leu253Phe Missense 5/12 -
1-55505604-G-A PCSK9 c.94G>A p.Glu32Lys Missense 1/12 -
1-55512222-C-G PCSK9 c.426C>G p.Tyr142* Nonsense 3/12 -
1-55523812-G-A PCSK9 c.1284G>A p.Trp428* Nonsense 8/12 -
1-55524211-C-T PCSK9 c.1394C>T p.Ser465Leu Missense 9/12 -
1-55523077-G-A PCSK9 c.1070G>A p.Arg357His Missense 7/12 -
1-55512252-G-T PCSK9 c.456G>T p.Gln152His Missense 3/12 -
1-55509538-C-T PCSK9 c.230C>T p.Thr77Ile Missense 2/12 -
19-45412053-CTCC-C APOE c.500_502delTCC p.Leu167delLeu InFrameDeletion 4/4 -
1-55509594-C-T PCSK9 c.286C>T p.Arg96Cys Missense 2/12 -
1-55505712-CG-C PCSK9 c.202delG p.Ala68Profs*15 Frameshift 1/12 -
1-55505613-G-T PCSK9 c.103G>T p.Asp35Tyr Missense 1/12 -
1-55523127-G-C PCSK9 c.1120G>C p.Asp374His Missense 7/12 -