Variant ID: 1-55524303-C-T

NM_174936.3(PCSK9):c.1486C>T;(p.Arg496Trp)

This variant was identified in 17 publications




Publications:


Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.

Biomedical Reports
VV Miroshnikova, OV Romanova, ON Ivanova, MA Fedyakov, AA Panteleeva, YA Barbitoff, MV Muzalevskaya, SA Urazgildeeva, VS Gurevich, SP Urazov, SG Scherbak, AM Sarana, NA Semenova, IV Anisimova, DM Guseva, SN Pchelina, AS Glotov, EY Zakharova, OS Glotov
Publication Date: 2021-01

Variant appearance in text: PCSK9: 1486C>T; Arg496Trp; rs374603772
PubMed Link: 33269076
Variant Present in the following documents:
  • Main text
View BVdb publication page



PCSK9 Gene E670G Polymorphism and Coronary Artery Disease: An Updated Meta-Analysis of 5,484 Subjects.

Frontiers In Cardiovascular Medicine
YY Li, H Wang, XX Yang, HY Geng, G Gong, XZ Lu
Publication Date: 2020

Variant appearance in text: PCSK9: R496W
PubMed Link: 33244470
Variant Present in the following documents:
  • Main text
View BVdb publication page



PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.

Frontiers In Genetics
Q Guo, X Feng, Y Zhou
Publication Date: 2020

Variant appearance in text: PCSK9: R496W
PubMed Link: 33173529
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular diagnosis methods in familial hypercholesterolemia.

Anatolian Journal Of Cardiology
V Moldovan, C Banescu, M Dobreanu
Publication Date: 2020-02

Variant appearance in text: PCSK9: R496W; rs374603772
PubMed Link: 32120369
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: Arg496Trp
PubMed Link: 32106405
Variant Present in the following documents:
  • Main text
View BVdb publication page



A transient amphipathic helix in the prodomain of PCSK9 facilitates binding to low-density lipoprotein particles.

The Journal Of Biological Chemistry
SK Sarkar, ACY Foo, A Matyas, I Asikhia, T Kosenko, NK Goto, A Vergara-Jaque, TA Lagace
Publication Date: 2020-02-21

Variant appearance in text: PCSK9: R496W
PubMed Link: 31949048
Variant Present in the following documents:
  • Main text
View BVdb publication page



Effects of Genetic Variants Associated with Familial Hypercholesterolemia on Low-Density Lipoprotein-Cholesterol Levels and Cardiovascular Outcomes in the Million Veteran Program.

Circulation. Genomic And Precision Medicine
YV Sun, SM Damrauer, Q Hui, TL Assimes, YL Ho, P Natarajan, D Klarin, J Huang, J Lynch, SL DuVall, S Pyarajan, JP Honerlaw, JM Gaziano, K Cho, DJ Rader, CJ O'Donnell, PS Tsao, PWF Wilson
Publication Date: 2018-12

Variant appearance in text: PCSK9: 1486C>T; Arg496Trp; rs374603772
PubMed Link: 31106297
Variant Present in the following documents:
  • NIHMS1512622-supplement-002192_-_Supplemental_Material.pdf
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: R496W; rs374603772
PubMed Link: 29724976
Variant Present in the following documents:
  • Main text
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: R496W; rs374603772
PubMed Link: 28777095
Variant Present in the following documents:
  • Main text
View BVdb publication page



Trafficking Dynamics of PCSK9-Induced LDLR Degradation: Focus on Human PCSK9 Mutations and C-Terminal Domain.

Plos One
S Poirier, HA Hamouda, L Villeneuve, A Demers, G Mayer
Publication Date: 2016

Variant appearance in text: PCSK9: R496W
PubMed Link: 27280970
Variant Present in the following documents:
  • Main text
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: Arg496Trp
PubMed Link: 26374825
Variant Present in the following documents:
  • hcg-8-823-s003.pdf
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: PCSK9: R496W
PubMed Link: 26195630
Variant Present in the following documents:
  • Main text
View BVdb publication page



Annexin A2 reduces PCSK9 protein levels via a translational mechanism and interacts with the M1 and M2 domains of PCSK9.

The Journal Of Biological Chemistry
K Ly, YG Saavedra, M Canuel, S Routhier, R Desjardins, J Hamelin, J Mayne, C Lazure, NG Seidah, R Day
Publication Date: 2014-06-20

Variant appearance in text: PCSK9: R496W
PubMed Link: 24808179
Variant Present in the following documents:
  • Main text
View BVdb publication page



The M2 module of the Cys-His-rich domain (CHRD) of PCSK9 protein is needed for the extracellular low-density lipoprotein receptor (LDLR) degradation pathway.

The Journal Of Biological Chemistry
YG Saavedra, R Day, NG Seidah
Publication Date: 2012-12-21

Variant appearance in text: PCSK9: R496W
PubMed Link: 23105118
Variant Present in the following documents:
  • Main text
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: PCSK9: R496W
PubMed Link: 21862702
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structure-based kernels for the prediction of catalytic residues and their involvement in human inherited disease.

Bioinformatics (Oxford, England)
F Xin, S Myers, YF Li, DN Cooper, SD Mooney, P Radivojac
Publication Date: 2010-08-15

Variant appearance in text: PCSK9: R496W
PubMed Link: 20551136
Variant Present in the following documents:
  • Main text
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: R496W
PubMed Link: 18566665
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1486C>T p.Arg496Trp missense_variant 9/12 -
ENST00000490692.1 n.2210C>T - non_coding_transcript_exon_variant 6/8 -
ENST00000543384.1 c.*33C>T - 3_prime_UTR_variant 7/10 -
NM_174936.4 c.1486C>T p.Arg496Trp missense_variant 9/12 -
NR_110451.1 n.1093C>T - non_coding_transcript_exon_variant 7/10 -