Variant ID: 19-11221366-C-T

NM_000527.4(LDLR):c.979C>T;(p.His327Tyr)

This variant was identified in 4 publications




Publications:


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: H327Y
PubMed Link: 27998977
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: His327Tyr
PubMed Link: 27050191
Variant Present in the following documents:
  • NIHMS853613-supplement-Appendix.docx
View BVdb publication page



Proprotein convertase subtilisin/kexin type 9 (PCSK9) can mediate degradation of the low density lipoprotein receptor-related protein 1 (LRP-1).

Plos One
M Canuel, X Sun, MC Asselin, E Paramithiotis, A Prat, NG Seidah
Publication Date: 2013

Variant appearance in text: LDLR: H327Y
PubMed Link: 23675525
Variant Present in the following documents:
  • Main text
View BVdb publication page



Loss- and gain-of-function PCSK9 variants: cleavage specificity, dominant negative effects, and low density lipoprotein receptor (LDLR) degradation.

The Journal Of Biological Chemistry
S Benjannet, J Hamelin, M Chr├ętien, NG Seidah
Publication Date: 2012-09-28

Variant appearance in text: LDLR: H327Y
PubMed Link: 22875854
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000252444.5 c.1234C>T p.His412Tyr missense_variant 7/18 -
ENST00000455727.2 c.475C>T p.His159Tyr missense_variant 5/16 -
ENST00000535915.1 c.856C>T p.His286Tyr missense_variant 6/17 -
ENST00000545707.1 c.598C>T p.His200Tyr missense_variant 6/16 -
ENST00000557933.1 c.979C>T p.His327Tyr missense_variant 7/18 -
ENST00000558013.1 c.979C>T p.His327Tyr missense_variant 7/18 -
ENST00000558518.1 c.979C>T p.His327Tyr missense_variant 7/18 -
ENST00000560467.1 c.541-824C>T - intron_variant - 3/5
NM_000527.5 c.979C>T p.His327Tyr missense_variant 7/18 -
NM_001195798.2 c.979C>T p.His327Tyr missense_variant 7/18 -
NM_001195799.2 c.856C>T p.His286Tyr missense_variant 6/17 -
NM_001195800.2 c.475C>T p.His159Tyr missense_variant 5/16 -
NM_001195803.2 c.598C>T p.His200Tyr missense_variant 6/16 -