Variant ID: 19-11216264-G-A

NM_000527.4(LDLR):c.682G>A;(p.Glu228Lys)

This variant was identified in 20 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: Glu228Lys
PubMed Link: 33519890
Variant Present in the following documents:
  • Main text
View BVdb publication page



Proteostasis Regulation in the Endoplasmic Reticulum: An Emerging Theme in the Molecular Pathology and Therapeutic Management of Familial Hypercholesterolemia.

Frontiers In Genetics
D Oommen, P Kizhakkedath, AA Jawabri, DS Varghese, BR Ali
Publication Date: 2020

Variant appearance in text: LDLR: 682G>A; E228K; rs121908029
PubMed Link: 33173538
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Diagnosis of Familial Hypercholesterolemia in Asia.

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

Variant appearance in text: LDLR: 682G>A
PubMed Link: 32793292
Variant Present in the following documents:
  • Main text
View BVdb publication page



A systematic review of LDLR, PCSK9, and APOB variants in Asia.

Atherosclerosis
N Mahdieh, K Heshmatzad, B Rabbani
Publication Date: 2020-07

Variant appearance in text: LDLR: 682G>A; Glu228Lys
PubMed Link: 32629184
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: rs121908029
PubMed Link: 32034223
Variant Present in the following documents:
  • Supplemental file
  • 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: LDLR: E228K
PubMed Link: 31949048
Variant Present in the following documents:
  • zbc2285.pdf
  • Main text
View BVdb publication page



Low-density lipoprotein receptor gene mutation at Exon 2 and 4 in premature coronary artery disease in our population.

Pakistan Journal Of Medical Sciences
S Rehman, TM Ahmad, A Hayat, S Tahir
Publication Date: 2019

Variant appearance in text: LDLR: 682G>A; E228K
PubMed Link: 31372158
Variant Present in the following documents:
  • Main text
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: LDLR: E228K
PubMed Link: 29724976
Variant Present in the following documents:
  • Main text
View BVdb publication page



Detection of Familial Hypercholesterolemia Using Next Generation Sequencing in Two Population-Based Cohorts.

Chonnam Medical Journal
HN Kim, SS Kweon, MH Shin
Publication Date: 2018-01

Variant appearance in text: LDLR: Glu228Lys
PubMed Link: 29399563
Variant Present in the following documents:
  • Main text
View BVdb publication page



Usefulness of the genetic risk score to identify phenocopies in families with familial hypercholesterolemia?

European Journal Of Human Genetics : Ejhg
Y Ghaleb, S Elbitar, P El Khoury, E Bruckert, V Carreau, A Carrié, P Moulin, M Di-Filippo, S Charriere, H Iliozer, M Farnier, G Luc, JP Rabès, C Boileau, M Abifadel, M Varret
Publication Date: 2018-04

Variant appearance in text: LDLR: 682G>A; Glu228Lys; rs121908029
PubMed Link: 29374275
Variant Present in the following documents:
  • Main text
View BVdb publication page



The panorama of familial hypercholesterolemia in Latin America: a systematic review.

Journal Of Lipid Research
R Mehta, R Zubirán, AJ Martagón, A Vazquez-Cárdenas, Y Segura-Kato, MT Tusié-Luna, CA Aguilar-Salinas
Publication Date: 2016-12

Variant appearance in text: LDLR: 682G>A; Glu228Lys
PubMed Link: 27777316
Variant Present in the following documents:
  • Main text
View BVdb publication page



Management of Familial Hypercholesterolemia in Hong Kong.

Journal Of Atherosclerosis And Thrombosis
M Hu, AJ Hooper, FM Bockxmeer, GF Watts, JC Chan, B Tomlinson
Publication Date: 2016-05-02

Variant appearance in text: LDLR: Glu228Lys
PubMed Link: 26875521
Variant Present in the following documents:
  • Main text
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: 682G>A
PubMed Link: 26608663
Variant Present in the following documents:
  • srep17272-s1.doc
View BVdb publication page



Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing.

Plos One
SM Han, B Hwang, TG Park, DI Kim, MY Rhee, BK Lee, YK Ahn, BR Cho, J Woo, SH Hur, JO Jeong, S Park, Y Jang, MG Lee, D Bang, JH Lee, SH Lee
Publication Date: 2015

Variant appearance in text: LDLR: 682G>A; E228K
PubMed Link: 25962062
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome sequencing in suspected monogenic dyslipidemias.

Circulation. Cardiovascular Genetics
NO Stitziel, GM Peloso, M Abifadel, AB Cefalu, S Fouchier, MM Motazacker, H Tada, DB Larach, Z Awan, JF Haller, CR Pullinger, M Varret, JP Rabès, D Noto, P Tarugi, MA Kawashiri, A Nohara, M Yamagishi, M Risman, R Deo, I Ruel, J Shendure, DA Nickerson, JG Wilson, SS Rich, N Gupta, DN Farlow, BM Neale, MJ Daly, JP Kane, MW Freeman, J Genest, DJ Rader, H Mabuchi, JJ Kastelein, GK Hovingh, MR Averna, S Gabriel, C Boileau, S Kathiresan
Publication Date: 2015-04

Variant appearance in text: LDLR: E228K
PubMed Link: 25632026
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: LDLR: E228K
PubMed Link: 21862702
Variant Present in the following documents:
  • Main text
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: Glu228Lys
PubMed Link: 21475731
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia.

Human Mutation
R Huijgen, I Kindt, SW Fouchier, JC Defesche, BA Hutten, JJ Kastelein, MN Vissers
Publication Date: 2010-06

Variant appearance in text: LDLR: Glu228Lys
PubMed Link: 20506408
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease.

Human Mutation
M Abifadel, JP Rabès, M Devillers, A Munnich, D Erlich, C Junien, M Varret, C Boileau
Publication Date: 2009-04

Variant appearance in text: LDLR: E228K
PubMed Link: 19191301
Variant Present in the following documents:
  • Main text
View BVdb publication page



Familial hypercholesterolaemia in Portugal.

Atherosclerosis
M Bourbon, AC Alves, AM Medeiros, S Silva, AK Soutar,
Publication Date: 2008-02

Variant appearance in text: LDLR: 682G>A
PubMed Link: 17765246
Variant Present in the following documents:
  • Supplemental file
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000252444.5 c.937G>A p.Glu313Lys missense_variant 4/18 -
ENST00000455727.2 c.314-1804G>A - intron_variant - 3/15
ENST00000535915.1 c.559G>A p.Glu187Lys missense_variant 3/17 -
ENST00000545707.1 c.314-977G>A - intron_variant - 3/15
ENST00000557933.1 c.682G>A p.Glu228Lys missense_variant 4/18 -
ENST00000558013.1 c.682G>A p.Glu228Lys missense_variant 4/18 -
ENST00000558518.1 c.682G>A p.Glu228Lys missense_variant 4/18 -
ENST00000560467.1 c.283G>A p.Glu95Lys missense_variant 1/6 -
NM_000527.5 c.682G>A p.Glu228Lys missense_variant 4/18 -
NM_001195798.2 c.682G>A p.Glu228Lys missense_variant 4/18 -
NM_001195799.2 c.559G>A p.Glu187Lys missense_variant 3/17 -
NM_001195800.2 c.314-1804G>A - intron_variant - 3/15
NM_001195803.2 c.314-977G>A - intron_variant - 3/15