Variant ID: 19-11224052-G-A

NM_000527.4(LDLR):c.1285G>A;(p.Val429Met)

This variant was identified in 11 publications




Publications:


Genetic Diagnosis of Familial Hypercholesterolemia in Asia.

Frontiers In Genetics
CC Huang, MJ Charng
Publication Date: 2020

Variant appearance in text: LDLR: 1285G>A
PubMed Link: 32793292
Variant Present in the following documents:
  • Main text
View BVdb publication page



Low Density Lipoprotein Receptor Variants in the Beta-Propeller Subdomain and Their Functional Impact.

Frontiers In Genetics
L Dušková, L Nohelová, T Loja, J Fialová, P Zapletalová, K Réblová, L Tichý, T Freiberger, L Fajkusová
Publication Date: 2020

Variant appearance in text: LDLR: 1285G>A; Val429Met
PubMed Link: 32695144
Variant Present in the following documents:
  • Main text
View BVdb publication page



Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants.

International Journal Of Molecular Sciences
A Benito-Vicente, KB Uribe, S Jebari, U Galicia-Garcia, H Ostolaza, C Martin
Publication Date: 2018-06-05

Variant appearance in text: LDLR: 1285G>A; Val429Met
PubMed Link: 29874871
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assessment of the 1% of Patients with Consistent < 15% Reduction in Low-Density Lipoprotein Cholesterol: Pooled Analysis of 10 Phase 3 ODYSSEY Alirocumab Trials.

Cardiovascular Drugs And Therapy
HE Bays, RS Rosenson, MT Baccara-Dinet, MJ Louie, D Thompson, GK Hovingh
Publication Date: 2018-04

Variant appearance in text: LDLR: Val429Met
PubMed Link: 29627892
Variant Present in the following documents:
  • Main text
View BVdb publication page



MTP Gene Variants and Response to Lomitapide in Patients with Homozygous Familial Hypercholesterolemia.

Journal Of Atherosclerosis And Thrombosis
GD Kolovou, V Kolovou, A Papadopoulou, GF Watts
Publication Date: 2016-07-01

Variant appearance in text: LDLR: 1285G>A; Val429Met
PubMed Link: 27170061
Variant Present in the following documents:
  • Main text
View BVdb publication page



Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia.

Journal Of The American College Of Cardiology
AV Khera, HH Won, GM Peloso, KS Lawson, TM Bartz, X Deng, EM van Leeuwen, P Natarajan, CA Emdin, AG Bick, AC Morrison, JA Brody, N Gupta, A Nomura, T Kessler, S Duga, JC Bis, CM van Duijn, LA Cupples, B Psaty, DJ Rader, J Danesh, H Schunkert, R McPherson, M Farrall, H Watkins, E Lander, JG Wilson, A Correa, E Boerwinkle, PA Merlini, D Ardissino, D Saleheen, S Gabriel, S Kathiresan
Publication Date: 2016-06-07

Variant appearance in text: LDLR: Val429Met
PubMed Link: 27050191
Variant Present in the following documents:
  • NIHMS853613-supplement-Appendix.docx
View BVdb publication page



The distribution and characteristics of LDL receptor mutations in China: A systematic review.

Scientific Reports
L Jiang, LY Sun, YF Dai, SW Yang, F Zhang, LY Wang
Publication Date: 2015-11-26

Variant appearance in text: LDLR: 1285G>A
PubMed Link: 26608663
Variant Present in the following documents:
  • Main text
  • srep17272-s1.doc
View BVdb publication page



Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.

European Journal Of Human Genetics : Ejhg
I Brænne, M Kleinecke, B Reiz, E Graf, T Strom, T Wieland, M Fischer, T Kessler, C Hengstenberg, T Meitinger, J Erdmann, H Schunkert
Publication Date: 2016-02

Variant appearance in text: LDLR: 1285G>A; V429M
PubMed Link: 26036859
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic.

Atherosclerosis
M Futema, RA Whittall, A Kiley, LK Steel, JA Cooper, E Badmus, SE Leigh, F Karpe, HA Neil, , SE Humphries
Publication Date: 2013-07

Variant appearance in text: LDLR: 1285G>A; Val429Met
PubMed Link: 23669246
Variant Present in the following documents:
  • mmc1.docx
View BVdb publication page



Nutraceutical pill containing berberine versus ezetimibe on plasma lipid pattern in hypercholesterolemic subjects and its additive effect in patients with familial hypercholesterolemia on stable cholesterol-lowering treatment.

Lipids In Health And Disease
L Pisciotta, A Bellocchio, S Bertolini
Publication Date: 2012-09-22

Variant appearance in text: LDLR: 1285G>A; V429M
PubMed Link: 22998978
Variant Present in the following documents:
  • 1476-511X-11-123-S1.docx
View BVdb publication page



Founder mutations in the Netherlands: geographical distribution of the most prevalent mutations in the low-density lipoprotein receptor and apolipoprotein B genes.

Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation
DM Kusters, R Huijgen, JC Defesche, MN Vissers, I Kindt, BA Hutten, JJ Kastelein
Publication Date: 2011-04

Variant appearance in text: LDLR: Val429Met
PubMed Link: 21475731
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000252444.5 c.1540G>A p.Val514Met missense_variant 9/18 -
ENST00000455727.2 c.781G>A p.Val261Met missense_variant 7/16 -
ENST00000535915.1 c.1162G>A p.Val388Met missense_variant 8/17 -
ENST00000545707.1 c.904G>A p.Val302Met missense_variant 8/16 -
ENST00000557933.1 c.1285G>A p.Val429Met missense_variant 9/18 -
ENST00000558013.1 c.1285G>A p.Val429Met missense_variant 9/18 -
ENST00000558518.1 c.1285G>A p.Val429Met missense_variant 9/18 -
ENST00000559340.1 c.7G>A p.Val3Met missense_variant,NMD_transcript_variant 1/5 -
ENST00000560173.1 n.284G>A - non_coding_transcript_exon_variant 3/3 -
ENST00000560467.1 c.766G>A p.Val256Met missense_variant 5/6 -
NM_000527.5 c.1285G>A p.Val429Met missense_variant 9/18 -
NM_001195798.2 c.1285G>A p.Val429Met missense_variant 9/18 -
NM_001195799.2 c.1162G>A p.Val388Met missense_variant 8/17 -
NM_001195800.2 c.781G>A p.Val261Met missense_variant 7/16 -
NM_001195803.2 c.904G>A p.Val302Met missense_variant 8/16 -