PMID: 33173529

PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.

Frontiers in genetics
Q Guo, X Feng, Y Zhou
2020

60 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55521681-G-A PCSK9 c.815G>A p.Arg272Gln Missense 6/12 -
1-55524222-C-T PCSK9 c.1405C>T p.Arg469Trp Missense 9/12 -
1-55518371-G-A PCSK9 c.706G>A p.Gly236Ser Missense 5/12 -
1-55518081-A-C PCSK9 c.654A>C p.Arg218Ser Missense 4/12 -
1-55512252-G-T PCSK9 c.456G>T p.Gln152His Missense 3/12 -
1-55523068-A-T PCSK9 c.1061A>T p.Asn354Ile Missense 7/12 -
1-55523127-G-C PCSK9 c.1120G>C p.Asp374His Missense 7/12 -
1-55521812-G-T PCSK9 c.946G>T p.Gly316Cys Missense 6/12 -
1-55509595-G-T PCSK9 c.287G>T p.Arg96Leu Missense 2/12 -
4-68441122-T-C STAP1 c.212T>C p.Ile71Thr Missense 3/9 -
1-55505712-CG-C PCSK9 c.202delG p.Ala68Profs*15 Frameshift 1/12 -
1-55509594-C-T PCSK9 c.286C>T p.Arg96Cys Missense 2/12 -
1-55509689-T-A PCSK9 c.381T>A p.Ser127Arg Missense 2/12 -
1-55518323-G-A PCSK9 c.658G>A p.Ala220Thr Missense 5/12 -
1-55518081-A-T PCSK9 c.654A>T p.Arg218Ser Missense 4/12 -
8-131894883-G-A ADCY8 c.2109+1927C>T - IntronicSNV - 8/17
1-241675302-G-A FH c.520C>T p.Pro174Ser Missense 4/10 -
20-3065218-C-A AVP c.103G>T p.Asp35Tyr Missense 1/3 -
1-55529084-A-C PCSK9 c.1906A>C p.Ser636Arg Missense 12/12 -
1-55518398-G-A PCSK9 c.733G>A p.Ala245Thr Missense 5/12 -
1-55505604-G-A PCSK9 c.94G>A p.Glu32Lys Missense 1/12 -
1-55505647-G-T PCSK9 c.137G>T p.Arg46Leu Missense 1/12 -
1-55509622-G-A PCSK9 c.314G>A p.Arg105Gln Missense 2/12 -
1-55512267-C-A PCSK9 c.471C>A p.Asn157Lys Missense 3/12 -
4-68449380-G-A STAP1 c.619G>A p.Asp207Asn Missense 6/9 -
1-55523076-C-T PCSK9 c.1069C>T p.Arg357Cys Missense 7/12 -
1-55512222-C-G PCSK9 c.426C>G p.Tyr142* Nonsense 3/12 -
1-55524303-C-T PCSK9 c.1486C>T p.Arg496Trp Missense 9/12 -
1-55509631-T-G PCSK9 c.323T>G p.Leu108Arg Missense 2/12 -
19-11224041-A-G LDLR c.1274A>G p.Asn425Ser Missense 9/18 -
1-55529108-GT-CG PCSK9 c.1930_1931delGTinsCG p.Val644Arg Missense 12/12 -
1-55512252-G-C PCSK9 c.456G>C p.Gln152His Missense 3/12 -
4-68441116-T-C STAP1 c.206T>C p.Leu69Ser Missense 3/9 -
1-55518071-G-A PCSK9 c.644G>A p.Arg215His Missense 4/12 -
1-55509649-T-C PCSK9 c.341T>C p.Val114Ala Missense 2/12 -
1-55509694-A-G PCSK9 c.386A>G p.Asp129Gly Missense 2/12 -
1-55509618-C-T PCSK9 c.310C>T p.Arg104Cys Missense 2/12 -
1-55509624-G-C PCSK9 c.316G>C p.Gly106Arg Missense 2/12 -
1-55518374-C-T PCSK9 c.709C>T p.Arg237Trp Missense 5/12 -
1-55525204-G-C PCSK9 c.1549G>C p.Gly517Arg Missense 10/12 -
1-55524313-G-A PCSK9 c.1496G>A p.Arg499His Missense 9/12 -
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -
1-55509624-G-A PCSK9 c.316G>A p.Gly106Arg Missense 2/12 -
1-55529215-C-A PCSK9 c.2037C>A p.Cys679* Nonsense 12/12 -
1-55512299-C-A PCSK9 c.503C>A p.Ala168Glu Missense 3/12 -
1-55509585-C-T PCSK9 c.277C>T p.Arg93Cys Missense 2/12 -
1-55529187-G-A PCSK9 c.2009G>A p.Gly670Glu Missense 12/12 -
1-55518422-C-T PCSK9 c.757C>T p.Leu253Phe Missense 5/12 -
2-21250758-T-C APOB c.2009A>G p.Glu670Gly Missense 14/29 -
4-68441201-G-C STAP1 c.291G>C p.Glu97Asp Missense 3/9 -
1-55523077-G-A PCSK9 c.1070G>A p.Arg357His Missense 7/12 -
1-55518073-T-C PCSK9 c.646T>C p.Phe216Leu Missense 4/12 -
1-55523855-G-A PCSK9 c.1327G>A p.Ala443Thr Missense 8/12 -
4-68447185-C-T STAP1 c.526C>T p.Pro176Ser Missense 5/9 -
1-55505553-C-CCTG PCSK9 c.43_44insCTG p.Leu15delinsProval MultiAAMissense 1/12 -
1-55527194-GT-CG PCSK9 c.1828_1829delGTinsCG p.Val610Arg Missense 11/12 -
1-55524201-T-C PCSK9 c.1384T>C p.Ser462Pro Missense 9/12 -
1-55509621-C-T PCSK9 c.313C>T p.Arg105Trp Missense 2/12 -
2-21252820-T-C APOB c.1420A>G p.Ile474Val Missense 11/29 -
2-21229554-C-T APOB c.10186G>A p.Ala3396Thr Missense 26/29 -