Variant ID: 19-11216263-C-A

NM_000527.4(LDLR):c.681C>A;(p.Asp227Glu)

This variant was identified in 9 publications




Publications:


The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype-Phenotype Correlations of the Disease.

Frontiers In Genetics
A Kamar, A Khalil, G Nemer
Publication Date: 2020

Variant appearance in text: LDLR: Asp227Glu
PubMed Link: 33519890
Variant Present in the following documents:
  • Main text
View BVdb publication page



Statin-induced myopathic changes in primary human muscle cells and reversal by a prostaglandin F2 alpha analogue.

Scientific Reports
SA Grunwald, O Popp, S Haafke, N Jedraszczak, U Grieben, K Saar, G Patone, W Kress, E Steinhagen-Thiessen, G Dittmar, S Spuler
Publication Date: 2020-02-07

Variant appearance in text: rs121908028
PubMed Link: 32034223
Variant Present in the following documents:
  • Supplemental file
  • 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: Asp227Glu
PubMed Link: 29627892
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alirocumab efficacy in patients with double heterozygous, compound heterozygous, or homozygous familial hypercholesterolemia.

Journal Of Clinical Lipidology
ML Hartgers, JC Defesche, G Langslet, PN Hopkins, JJP Kastelein, MT Baccara-Dinet, W Seiz, S Hamon, P Banerjee, C Stefanutti
Publication Date: 2018

Variant appearance in text: LDLR: Asp227Glu
PubMed Link: 29396260
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Actionable secondary findings from whole-genome sequencing of 954 East Asians.

Human Genetics
CS Tang, S Dattani, MT So, SS Cherny, PKH Tam, PC Sham, MM Garcia-Barcelo
Publication Date: 2018-01

Variant appearance in text: LDLR: 681C>A; Asp227Glu; rs121908028
PubMed Link: 29128982
Variant Present in the following documents:
  • Supplemental file
  • Main text
View BVdb publication page



Efficacy of alirocumab in 1191 patients with a wide spectrum of mutations in genes causative for familial hypercholesterolemia.

Journal Of Clinical Lipidology
JC Defesche, C Stefanutti, G Langslet, PN Hopkins, W Seiz, MT Baccara-Dinet, SC Hamon, P Banerjee, JJP Kastelein
Publication Date: 2017

Variant appearance in text: LDLR: Asp227Glu
PubMed Link: 28964736
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



The Proprotein Convertase Subtilisin/Kexin Type 9-resistant R410S Low Density Lipoprotein Receptor Mutation: A NOVEL MECHANISM CAUSING FAMILIAL HYPERCHOLESTEROLEMIA.

The Journal Of Biological Chemistry
D Susan-Resiga, E Girard, RS Kiss, R Essalmani, J Hamelin, MC Asselin, Z Awan, C Butkinaree, A Fleury, A Soldera, YL Dory, A Baass, NG Seidah
Publication Date: 2017-02-03

Variant appearance in text: LDLR: D227E
PubMed Link: 27998977
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.

Metabolism: Clinical And Experimental
M Sharifi, M Walus-Miarka, B Idzior-Waluś, MT Malecki, M Sanak, R Whittall, KW Li, M Futema, SE Humphries
Publication Date: 2016-03

Variant appearance in text: N/A
PubMed Link: 26892515
Variant Present in the following documents:
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: Asp227Glu
PubMed Link: 23669246
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000252444.5 c.936C>A p.Asp312Glu missense_variant 4/18 -
ENST00000455727.2 c.314-1805C>A - intron_variant - 3/15
ENST00000535915.1 c.558C>A p.Asp186Glu missense_variant 3/17 -
ENST00000545707.1 c.314-978C>A - intron_variant - 3/15
ENST00000557933.1 c.681C>A p.Asp227Glu missense_variant 4/18 -
ENST00000558013.1 c.681C>A p.Asp227Glu missense_variant 4/18 -
ENST00000558518.1 c.681C>A p.Asp227Glu missense_variant 4/18 -
ENST00000560467.1 c.282C>A p.Asp94Glu missense_variant 1/6 -
NM_000527.5 c.681C>A p.Asp227Glu missense_variant 4/18 -
NM_001195798.2 c.681C>A p.Asp227Glu missense_variant 4/18 -
NM_001195799.2 c.558C>A p.Asp186Glu missense_variant 3/17 -
NM_001195800.2 c.314-1805C>A - intron_variant - 3/15
NM_001195803.2 c.314-978C>A - intron_variant - 3/15