Variant ID: 19-11216263-C-G

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

This variant was identified in 9 publications




Publications:


Genetics, Screening, and Treatment of Familial Hypercholesterolemia: Experience Gained From the Implementation of the Vietnam Familial Hypercholesterolemia Registry.

Frontiers In Genetics
TH Truong, DL Do, NT Kim, MT Nguyen, TT Le, HA Le
Publication Date: 2020

Variant appearance in text: LDLR: 681C>G; Asp227Glu
PubMed Link: 32922439
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:
  • 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: 681C>G; Asp227Glu
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: N/A
PubMed Link: 29627892
Variant Present in the following documents:
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: N/A
PubMed Link: 27998977
Variant Present in the following documents:
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: LDLR: Asp227Glu
PubMed Link: 26892515
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: 681C>G
PubMed Link: 26608663
Variant Present in the following documents:
  • srep17272-s1.doc
View BVdb publication page



Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.

Journal Of Medical Genetics
M Futema, V Plagnol, K Li, RA Whittall, HA Neil, M Seed, , S Bertolini, S Calandra, OS Descamps, CA Graham, RA Hegele, F Karpe, R Durst, E Leitersdorf, N Lench, DR Nair, H Soran, FM Van Bockxmeer, , SE Humphries
Publication Date: 2014-08

Variant appearance in text: LDLR: 681C>G; D227E
PubMed Link: 24987033
Variant Present in the following documents:
  • jmedgenet-2014-102405-s1.pdf
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: 681C>G; Asp227Glu
PubMed Link: 23669246
Variant Present in the following documents:
  • Main text
  • mmc1.docx
View BVdb publication page



Alternative transcript annotations:

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