Variant ID: 1-55523855-G-A

NM_174936.3(PCSK9):c.1327G>A;(p.Ala443Thr)

This variant was identified in 22 publications




Publications:


Minority-centric meta-analyses of blood lipid levels identify novel loci in the Population Architecture using Genomics and Epidemiology (PAGE) study.

Plos Genetics
Y Hu, M Graff, J Haessler, S Buyske, SA Bien, R Tao, HM Highland, KK Nishimura, N Zubair, Y Lu, M Verbanck, AT Hilliard, D Klarin, SM Damrauer, YL Ho, , PWF Wilson, KM Chang, PS Tsao, K Cho, CJ O'Donnell, TL Assimes, LE Petty, JE Below, O Dikilitas, DJ Schaid, ML Kosel, IJ Kullo, LJ Rasmussen-Torvik, GP Jarvik, Q Feng, WQ Wei, EB Larson, FD Mentch, B Almoguera, PM Sleiman, LM Raffield, A Correa, LW Martin, M Daviglus, TC Matise, JL Ambite, CS Carlson, R Do, RJF Loos, LR Wilkens, L Le Marchand, C Haiman, DO Stram, LA Hindorff, KE North, C Kooperberg, I Cheng, U Peters
Publication Date: 2020-03-30

Variant appearance in text: rs28362263
PMID: 32226016
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A Healthy Family of Familial Hypobetalipoproteinemia Caused by a Protein-truncating Variant in the PCSK9 Gene.

Internal Medicine (Tokyo, Japan)
H Tada, H Okada, A Nomura, A Nohara, M Takamura, MA Kawashiri
Publication Date: 2020

Variant appearance in text: PCSK9: Ala443Thr
PMID: 32173689
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C679X loss-of-function PCSK9 variant is associated with lower fasting glucose in black South African adolescents: Birth to Twenty Plus Cohort.

Journal Of Clinical & Translational Endocrinology
T Chikowore, V Sahibdeen, LM Hendry, SA Norris, JH Goedecke, LK Micklesfield, Z Lombard
Publication Date: 2019-06

Variant appearance in text: PCSK9: A443T; rs28362263
PMID: 30899674
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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: A443T; rs28362263
PMID: 30779729
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Complex genetic architecture in severe hypobetalipoproteinemia.

Lipids In Health And Disease
LR Wang, AD McIntyre, RA Hegele
Publication Date: 2018-03-14

Variant appearance in text: PCSK9: A443T
PMID: 29540175
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Malaria severity: Possible influence of the E670G PCSK9 polymorphism: A preliminary case-control study in Malian children.

Plos One
C Arama, I Diarra, B Kouriba, F Sirois, O Fedoryak, MA Thera, D Coulibaly, KE Lyke, CV Plowe, M Chrétien, OK Doumbo, M Mbikay
Publication Date: 2018

Variant appearance in text: PCSK9: 1327G>A; A443T; rs28362263
PMID: 29447211
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The effect of genetic variation in PCSK9 on the LDL-cholesterol response to statin therapy.

The Pharmacogenomics Journal
Q Feng, WQ Wei, CP Chung, RT Levinson, L Bastarache, JC Denny, CM Stein
Publication Date: 2017-03

Variant appearance in text: PCSK9: Ala443Thr; rs28362263
PMID: 26902539
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Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.

Journal Of Lipid Research
R Wintjens, D Bozon, K Belabbas, F MBou, JP Girardet, P Tounian, M Jolly, F Boccara, A Cohen, A Karsenty, B Dubern, JC Carel, A Azar-Kolakez, F Feillet, F Labarthe, AM Gorsky, A Horovitz, C Tamarindi, P Kieffer, A Lienhardt, O Lascols, M Di Filippo, F Dufernez
Publication Date: 2016-03

Variant appearance in text: PCSK9: Ala443Thr; rs28362263
PMID: 26802169
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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: A443T; rs28362263
PMID: 25412415
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Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol.

American Journal Of Human Genetics
LA Lange, Y Hu, H Zhang, C Xue, EM Schmidt, ZZ Tang, C Bizon, EM Lange, JD Smith, EH Turner, G Jun, HM Kang, G Peloso, P Auer, KP Li, J Flannick, J Zhang, C Fuchsberger, K Gaulton, C Lindgren, A Locke, A Manning, X Sim, MA Rivas, OL Holmen, O Gottesman, Y Lu, D Ruderfer, EA Stahl, Q Duan, Y Li, P Durda, S Jiao, A Isaacs, A Hofman, JC Bis, A Correa, ME Griswold, J Jakobsdottir, AV Smith, PJ Schreiner, MF Feitosa, Q Zhang, JE Huffman, J Crosby, CL Wassel, R Do, N Franceschini, LW Martin, JG Robinson, TL Assimes, DR Crosslin, EA Rosenthal, M Tsai, MJ Rieder, DN Farlow, AR Folsom, T Lumley, ER Fox, CS Carlson, U Peters, RD Jackson, CM van Duijn, AG Uitterlinden, D Levy, JI Rotter, HA Taylor, V Gudnason, DS Siscovick, M Fornage, IB Borecki, C Hayward, I Rudan, YE Chen, EP Bottinger, RJ Loos, P Sætrom, K Hveem, M Boehnke, L Groop, M McCarthy, T Meitinger, CM Ballantyne, SB Gabriel, CJ O'Donnell, WS Post, KE North, AP Reiner, E Boerwinkle, BM Psaty, D Altshuler, S Kathiresan, DY Lin, GP Jarvik, LA Cupples, C Kooperberg, JG Wilson, DA Nickerson, GR Abecasis, SS Rich, RP Tracy, CJ Willer,
Publication Date: 2014-02-06

Variant appearance in text: PCSK9: 1327G>A; Ala443Thr
PMID: 24507775
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Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.

American Journal Of Human Genetics
MA Coram, Q Duan, TJ Hoffmann, T Thornton, JW Knowles, NA Johnson, HM Ochs-Balcom, TA Donlon, LW Martin, CB Eaton, JG Robinson, NJ Risch, X Zhu, C Kooperberg, Y Li, AP Reiner, H Tang
Publication Date: 2013-06-06

Variant appearance in text: PCSK9: Ala443Thr; rs28362263
PMID: 23726366
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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: A443T
PMID: 23663650
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Trans-ethnic fine-mapping of lipid loci identifies population-specific signals and allelic heterogeneity that increases the trait variance explained.

Plos Genetics
Y Wu, LL Waite, AU Jackson, WH Sheu, S Buyske, D Absher, DK Arnett, E Boerwinkle, LL Bonnycastle, CL Carty, I Cheng, B Cochran, DC Croteau-Chonka, L Dumitrescu, CB Eaton, N Franceschini, X Guo, BE Henderson, LA Hindorff, E Kim, L Kinnunen, P Komulainen, WJ Lee, L Le Marchand, Y Lin, J Lindström, O Lingaas-Holmen, SL Mitchell, N Narisu, JG Robinson, F Schumacher, A Stančáková, J Sundvall, YJ Sung, AJ Swift, WC Wang, L Wilkens, T Wilsgaard, AM Young, LS Adair, CM Ballantyne, P Bůžková, A Chakravarti, FS Collins, D Duggan, AB Feranil, LT Ho, YJ Hung, SC Hunt, K Hveem, JM Juang, AY Kesäniemi, J Kuusisto, M Laakso, TA Lakka, IT Lee, MF Leppert, TC Matise, L Moilanen, I Njølstad, U Peters, T Quertermous, R Rauramaa, JI Rotter, J Saramies, J Tuomilehto, M Uusitupa, TD Wang, M Boehnke, CA Haiman, YD Chen, C Kooperberg, TL Assimes, DC Crawford, CA Hsiung, KE North, KL Mohlke
Publication Date: 2013-03

Variant appearance in text: PCSK9: A443T; rs28362263
PMID: 23555291
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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: 1327G>A; A443T; rs28362263
PMID: 21862702
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Longitudinal association of PCSK9 sequence variations with low-density lipoprotein cholesterol levels: the Coronary Artery Risk Development in Young Adults Study.

Circulation. Cardiovascular Genetics
CC Huang, M Fornage, DM Lloyd-Jones, GS Wei, E Boerwinkle, K Liu
Publication Date: 2009-08

Variant appearance in text: PCSK9: A443T; rs28362263
PMID: 20031607
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A new method for measurement of total plasma PCSK9: clinical applications.

Journal Of Lipid Research
G Dubuc, M Tremblay, G Paré, H Jacques, J Hamelin, S Benjannet, L Boulet, J Genest, L Bernier, NG Seidah, J Davignon
Publication Date: 2010-01

Variant appearance in text: PCSK9: A443T
PMID: 19571328
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Genetic and metabolic determinants of plasma PCSK9 levels.

The Journal Of Clinical Endocrinology And Metabolism
SG Lakoski, TA Lagace, JC Cohen, JD Horton, HH Hobbs
Publication Date: 2009-07

Variant appearance in text: PCSK9: A443T
PMID: 19351729
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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: PCSK9: A443T
PMID: 18197702
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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: PCSK9: A443T
PMID: 17971861
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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: A443T
PMID: 17215125
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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: A443T
PMID: 16909389
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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: 1327G>A; A443T
PMID: 16465619
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1327G>A p.Ala443Thr missense_variant 8/12 -
ENST00000490692.1 n.2051G>A - non_coding_transcript_exon_variant 5/8 -
ENST00000543384.1 c.702+25G>A - intron_variant - 6/9
NM_174936.4 c.1327G>A p.Ala443Thr missense_variant 8/12 -
NR_110451.1 n.961+25G>A - intron_variant,non_coding_transcript_variant - 6/9