Variant ID: 1-55518073-T-C

NM_174936.3(PCSK9):c.646T>C;(p.Phe216Leu)

This variant was identified in 31 publications




Publications:


In Silico Insights into Protein-protein Interaction Disruptive Mutations in the PCSK9-LDLR complex.

International Journal Of Molecular Sciences
WR Martin, FC Lightstone, F Cheng
Publication Date: 2020-02-25

Variant appearance in text: PCSK9: Phe216Leu
PMID: 32106405
View BVdb publication page



Novel strategies to target proprotein convertase subtilisin kexin 9: beyond monoclonal antibodies.

Cardiovascular Research
NG Seidah, A Prat, A Pirillo, AL Catapano, GD Norata
Publication Date: 2019-03-01

Variant appearance in text: PCSK9: F216L
PMID: 30629143
View BVdb publication page



Case-control study on PCSK9 R496W (rs374603772) and D374Y (rs137852912) mutations in Turkish patients with primary dyslipidemia.

Anatolian Journal Of Cardiology
Z Eroğlu, A Tetik Vardarlı, Z Düzgün, C Gündüz, V Bozok Çetintaş, M Kayıkçıoğlu
Publication Date: 2018-05

Variant appearance in text: PCSK9: F216L; rs28942112
PMID: 29724976
View BVdb publication page



Stepwise processing analyses of the single-turnover PCSK9 protease reveal its substrate sequence specificity and link clinical genotype to lipid phenotype.

The Journal Of Biological Chemistry
JS Chorba, AM Galvan, KM Shokat
Publication Date: 2018-02-09

Variant appearance in text: N/A
PMID: 29259136
View BVdb publication page



The PCSK9 revolution and the potential of PCSK9-based therapies to reduce LDL-cholesterol.

Global Cardiology Science & Practice
NG Seidah
Publication Date: 2017-03-31

Variant appearance in text: PCSK9: F216L
PMID: 28971102
View BVdb publication page



PCSK 9 gain-of-function mutations (R496W and D374Y) and clinical cardiovascular characteristics in a cohort of Turkish patients with familial hypercholesterolemia.

Anatolian Journal Of Cardiology
E Kaya, M Kayıkçıoğlu, A Tetik Vardarlı, Z Eroğlu, S Payzın, L Can
Publication Date: 2017-10

Variant appearance in text: PCSK9: F216L; rs28942112
PMID: 28777095
View BVdb publication page



Physiological and therapeutic regulation of PCSK9 activity in cardiovascular disease.

Basic Research In Cardiology
S Glerup, R Schulz, U Laufs, KD Schlüter
Publication Date: 2017-05

Variant appearance in text: PCSK9: F216L
PMID: 28439730
View BVdb publication page



The impact of genome-wide association studies on the pathophysiology and therapy of cardiovascular disease.

Embo Molecular Medicine
T Kessler, B Vilne, H Schunkert
Publication Date: 2016-07

Variant appearance in text: N/A
PMID: 27189168
View BVdb publication page



Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody.

Circulation. Cardiovascular Genetics
PN Hopkins, J Defesche, SW Fouchier, E Bruckert, G Luc, B Cariou, B Sjouke, TP Leren, M Harada-Shiba, H Mabuchi, JP Rabès, A Carrié, C van Heyningen, V Carreau, M Farnier, YP Teoh, M Bourbon, MA Kawashiri, A Nohara, H Soran, AD Marais, H Tada, M Abifadel, C Boileau, B Chanu, S Katsuda, I Kishimoto, G Lambert, H Makino, Y Miyamoto, M Pichelin, K Yagi, M Yamagishi, Y Zair, S Mellis, GD Yancopoulos, N Stahl, J Mendoza, Y Du, S Hamon, M Krempf, GD Swergold
Publication Date: 2015-12

Variant appearance in text: PCSK9: Phe216Leu
PMID: 26374825
View BVdb publication page



Plasma Membrane Tetraspanin CD81 Complexes with Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) and Low Density Lipoprotein Receptor (LDLR), and Its Levels Are Reduced by PCSK9.

The Journal Of Biological Chemistry
QT Le, M Blanchet, NG Seidah, P Labonté
Publication Date: 2015-09-18

Variant appearance in text: N/A
PMID: 26195630
View BVdb publication page



PCSK9 and LDLR degradation: regulatory mechanisms in circulation and in cells.

Current Opinion In Lipidology
TA Lagace
Publication Date: 2014-10

Variant appearance in text: N/A
PMID: 25110901
View BVdb publication page



Isolation and characterization of the circulating truncated form of PCSK9.

Journal Of Lipid Research
B Han, PI Eacho, MD Knierman, JS Troutt, RJ Konrad, X Yu, KM Schroeder
Publication Date: 2014-07

Variant appearance in text: PCSK9: F216L
PMID: 24776539
View BVdb publication page



Cholesterol: the good, the bad, and the ugly - therapeutic targets for the treatment of dyslipidemia.

Medical Principles And Practice : International Journal Of The Kuwait University, Health Science Centre
NA Elshourbagy, HV Meyers, SS Abdel-Meguid
Publication Date: 2014

Variant appearance in text: PCSK9: F216L
PMID: 24334831
View BVdb publication page



The roles of genetic polymorphisms and human immunodeficiency virus infection in lipid metabolism.

Biomed Research International
ER de Almeida, EM Reiche, AP Kallaur, T Flauzino, MA Watanabe
Publication Date: 2013

Variant appearance in text: N/A
PMID: 24319689
View BVdb publication page



Proprotein convertase subtilisin/kexin type 9: from the discovery to the development of new therapies for cardiovascular diseases.

Scientifica
N Ferri
Publication Date: 2012

Variant appearance in text: PCSK9: F216L
PMID: 24278757
View BVdb publication page



The biology of PCSK9 from the endoplasmic reticulum to lysosomes: new and emerging therapeutics to control low-density lipoprotein cholesterol.

Drug Design, Development And Therapy
S Poirier, G Mayer
Publication Date: 2013

Variant appearance in text: PCSK9: F216L
PMID: 24115837
View BVdb publication page



Autosomal dominant hypercholesterolemia: needs for early diagnosis and cascade screening in the tunisian population.

Current Genomics
A Jelassi, M Najah, A Slimani, I Jguirim, MN Slimane, M Varret
Publication Date: 2013-03

Variant appearance in text: PCSK9: F216L
PMID: 23997648
View BVdb publication page



Furin-cleaved proprotein convertase subtilisin/kexin type 9 (PCSK9) is active and modulates low density lipoprotein receptor and serum cholesterol levels.

The Journal Of Biological Chemistry
MT Lipari, W Li, P Moran, M Kong-Beltran, T Sai, J Lai, SJ Lin, G Kolumam, J Zavala-Solorio, A Izrael-Tomasevic, D Arnott, J Wang, AS Peterson, D Kirchhofer
Publication Date: 2012-12-21

Variant appearance in text: PCSK9: F216L
PMID: 23135270
View BVdb publication page



c-IAP1 binds and processes PCSK9 protein: linking the c-IAP1 in a TNF-α pathway to PCSK9-mediated LDLR degradation pathway.

Molecules (Basel, Switzerland)
W Xu, L Liu, D Hornby
Publication Date: 2012-10-15

Variant appearance in text: PCSK9: F216L
PMID: 23085658
View BVdb publication page



Low prevalence of mutations in known loci for autosomal dominant hypercholesterolemia in a multiethnic patient cohort.

Circulation. Cardiovascular Genetics
Z Ahmad, B Adams-Huet, C Chen, A Garg
Publication Date: 2012-12

Variant appearance in text: FH3: F216L
PMID: 23064986
View BVdb publication page



Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.

Journal Of Lipid Research
S Calandra, P Tarugi, HE Speedy, AF Dean, S Bertolini, CC Shoulders
Publication Date: 2011-11

Variant appearance in text: N/A
PMID: 21862702
View BVdb publication page



In vivo evidence that furin from hepatocytes inactivates PCSK9.

The Journal Of Biological Chemistry
R Essalmani, D Susan-Resiga, A Chamberland, M Abifadel, JW Creemers, C Boileau, NG Seidah, A Prat
Publication Date: 2011-02-11

Variant appearance in text: PCSK9: F216L
PMID: 21147780
View BVdb publication page



PCSK9: a convertase that coordinates LDL catabolism.

Journal Of Lipid Research
JD Horton, JC Cohen, HH Hobbs
Publication Date: 2009-04

Variant appearance in text: PCSK9: F216L
PMID: 19020338
View BVdb publication page



Common and rare gene variants affecting plasma LDL cholesterol.

The Clinical Biochemist. Reviews
JR Burnett, AJ Hooper
Publication Date: 2008-02

Variant appearance in text: PCSK9: F216L
PMID: 18566665
View BVdb publication page



Self-association of human PCSK9 correlates with its LDLR-degrading activity.

Biochemistry
D Fan, PG Yancey, S Qiu, L Ding, EJ Weeber, MF Linton, S Fazio
Publication Date: 2008-02-12

Variant appearance in text: N/A
PMID: 18197702
View BVdb publication page



Evidence for positive selection in the C-terminal domain of the cholesterol metabolism gene PCSK9 based on phylogenetic analysis in 14 primate species.

Plos One
K Ding, SJ McDonough, IJ Kullo
Publication Date: 2007-10-31

Variant appearance in text: N/A
PMID: 17971861
View BVdb publication page



Molecular biology of PCSK9: its role in LDL metabolism.

Trends In Biochemical Sciences
JD Horton, JC Cohen, HH Hobbs
Publication Date: 2007-02

Variant appearance in text: PCSK9: F216L
PMID: 17215125
View BVdb publication page



Secreted PCSK9 decreases the number of LDL receptors in hepatocytes and in livers of parabiotic mice.

The Journal Of Clinical Investigation
TA Lagace, DE Curtis, R Garuti, MC McNutt, SW Park, HB Prather, NN Anderson, YK Ho, RE Hammer, JD Horton
Publication Date: 2006-11

Variant appearance in text: PCSK9: F216L
PMID: 17080197
View BVdb publication page



Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote.

American Journal Of Human Genetics
Z Zhao, Y Tuakli-Wosornu, TA Lagace, L Kinch, NV Grishin, JD Horton, JC Cohen, HH Hobbs
Publication Date: 2006-09

Variant appearance in text: PCSK9: F216L
PMID: 16909389
View BVdb publication page



A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol.

American Journal Of Human Genetics
IK Kotowski, A Pertsemlidis, A Luke, RS Cooper, GL Vega, JC Cohen, HH Hobbs
Publication Date: 2006-03

Variant appearance in text: N/A
PMID: 16465619
View BVdb publication page



A common PCSK9 haplotype, encompassing the E670G coding single nucleotide polymorphism, is a novel genetic marker for plasma low-density lipoprotein cholesterol levels and severity of coronary atherosclerosis.

Journal Of The American College Of Cardiology
SN Chen, CM Ballantyne, AM Gotto, Y Tan, JT Willerson, AJ Marian
Publication Date: 2005-05-17

Variant appearance in text: PCSK9: F216L
PMID: 15893176
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.646T>C p.Phe216Leu missense_variant 4/12 -
ENST00000452118.2 c.*290T>C - 3_prime_UTR_variant 5/6 -
ENST00000490692.1 n.1467T>C - non_coding_transcript_exon_variant 1/8 -
ENST00000543384.1 c.46T>C p.Phe16Leu missense_variant 2/10 -
NM_174936.4 c.646T>C p.Phe216Leu missense_variant 4/12 -
NR_110451.1 n.305T>C - non_coding_transcript_exon_variant 2/10 -