Variant ID: 1-55525313-A-G

NM_174936.3(PCSK9):c.1658A>G;(p.His553Arg)

This variant was identified in 14 publications




Publications:


Identifying individual risk rare variants using protein structure guided local tests (POINT).

Plos Computational Biology
R Marceau West, W Lu, DM Rotroff, MA Kuenemann, SM Chang, MC Wu, MJ Wagner, JB Buse, AA Motsinger-Reif, D Fourches, JY Tzeng
Publication Date: 2019-02

Variant appearance in text: PCSK9: H553R; rs28362270
PMID: 30779729
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Development of vaccine for dyslipidemia targeted to a proprotein convertase subtilisin/kexin type 9 (PCSK9) epitope in mice.

Plos One
R Kawakami, Y Nozato, H Nakagami, Y Ikeda, M Shimamura, S Yoshida, J Sun, T Kawano, Y Takami, T Noma, H Rakugi, T Minamino, R Morishita
Publication Date: 2018

Variant appearance in text: PCSK9: H553R
PMID: 29438441
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Screening for familial hypercholesterolaemia in childhood: Avon Longitudinal Study of Parents and Children (ALSPAC).

Atherosclerosis
M Futema, JA Cooper, M Charakida, C Boustred, N Sattar, J Deanfield, DA Lawlor, NJ Timpson, , SE Humphries, AD Hingorani
Publication Date: 2017-05

Variant appearance in text: PCSK9: His553Arg
PMID: 28349888
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Comparing expression and activity of PCSK9 in SPRET/EiJ and C57BL/6J mouse strains shows lack of correlation with plasma cholesterol.

Molecular Genetics And Metabolism Reports
F Sirois, M Chrétien, M Mbikay
Publication Date: 2017-03

Variant appearance in text: PCSK9: H553R
PMID: 27995077
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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: H553R
PMID: 27280970
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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: H553R
PMID: 26195630
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PCSK9 variation and association with blood pressure in African Americans: preliminary findings from the HyperGEN and REGARDS studies.

Frontiers In Genetics
NT Tran, S Aslibekyan, HK Tiwari, D Zhi, YJ Sung, SC Hunt, DC Rao, U Broeckel, SE Judd, P Muntner, ST Kent, DK Arnett, MR Irvin
Publication Date: 2015

Variant appearance in text: PCSK9: 1658A>G; H553R; rs28362270
PMID: 25904937
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Both rare and common variants in PCSK9 influence plasma low-density lipoprotein cholesterol level in American Indians.

The Journal Of Clinical Endocrinology And Metabolism
CW Tsai, KE North, A Tin, K Haack, N Franceschini, V Saroja Voruganti, S Laston, Y Zhang, LG Best, JW MacCluer, TH Beaty, A Navas-Acien, WH Kao, BV Howard
Publication Date: 2015-02

Variant appearance in text: PCSK9: H553R; rs28362270
PMID: 25412415
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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: H553R
PMID: 24808179
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Differential effects of PCSK9 loss of function variants on serum lipid and PCSK9 levels in Caucasian and African Canadian populations.

Lipids In Health And Disease
J Mayne, TC Ooi, A Raymond, M Cousins, L Bernier, T Dewpura, F Sirois, M Mbikay, J Davignon, M Chrétien
Publication Date: 2013-05-10

Variant appearance in text: PCSK9: H553R
PMID: 23663650
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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: H553R
PMID: 23105118
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Testing for an unusual distribution of rare variants.

Plos Genetics
BM Neale, MA Rivas, BF Voight, D Altshuler, B Devlin, M Orho-Melander, S Kathiresan, SM Purcell, K Roeder, MJ Daly
Publication Date: 2011-03

Variant appearance in text: PCSK9: H553R
PMID: 21408211
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A proprotein convertase subtilisin-like/kexin type 9 (PCSK9) C-terminal domain antibody antigen-binding fragment inhibits PCSK9 internalization and restores low density lipoprotein uptake.

The Journal Of Biological Chemistry
YG Ni, JH Condra, L Orsatti, X Shen, S Di Marco, S Pandit, MJ Bottomley, L Ruggeri, RT Cummings, RM Cubbon, JC Santoro, A Ehrhardt, D Lewis, TS Fisher, S Ha, L Njimoluh, DD Wood, HA Hammond, D Wisniewski, C Volpari, A Noto, P Lo Surdo, B Hubbard, A Carfí, A Sitlani
Publication Date: 2010-04-23

Variant appearance in text: PCSK9: H553R
PMID: 20172854
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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: PCSK9: 1658A>G; H553R
PMID: 16465619
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1658A>G p.His553Arg missense_variant 10/12 -
ENST00000490692.1 n.2227+993A>G - intron_variant,non_coding_transcript_variant - 6/7
ENST00000543384.1 c.*205A>G - 3_prime_UTR_variant 8/10 -
NM_174936.4 c.1658A>G p.His553Arg missense_variant 10/12 -
NR_110451.1 n.1265A>G - non_coding_transcript_exon_variant 8/10 -