Variant ID: 19-11233886-C-T

NM_000527.4(LDLR):c.2177C>T;(p.Thr726Ile)

This variant was identified in 16 publications




Publications:


O-glycan initiation directs distinct biological pathways and controls epithelial differentiation.

Embo Reports
I Bagdonaite, EM Pallesen, Z Ye, SY Vakhrushev, IN Marinova, MI Nielsen, SH Kramer, SF Pedersen, HJ Joshi, EP Bennett, S Dabelsteen, HH Wandall
Publication Date: 2020-06-04

Variant appearance in text: LDLR: Thr726Ile
PubMed Link: 32329196
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular Characterization of Familial Hypercholesterolemia in a North American Cohort.

Journal Of The Endocrine Society
A Garg, S Fazio, PB Duell, A Baass, C Udata, T Joh, T Riel, M Sirota, D Dettling, H Liang, PD Garzone, B Gumbiner, H Wan
Publication Date: 2020-01-01

Variant appearance in text: LDLR: T726I; rs45508991
PubMed Link: 31993549
Variant Present in the following documents:
  • Main text
View BVdb publication page



Effects of Genetic Variants Associated with Familial Hypercholesterolemia on Low-Density Lipoprotein-Cholesterol Levels and Cardiovascular Outcomes in the Million Veteran Program.

Circulation. Genomic And Precision Medicine
YV Sun, SM Damrauer, Q Hui, TL Assimes, YL Ho, P Natarajan, D Klarin, J Huang, J Lynch, SL DuVall, S Pyarajan, JP Honerlaw, JM Gaziano, K Cho, DJ Rader, CJ O'Donnell, PS Tsao, PWF Wilson
Publication Date: 2018-12

Variant appearance in text: rs45508991
PubMed Link: 31106297
Variant Present in the following documents:
  • Main text
  • nihms-1512622.pdf
View BVdb publication page



Exome sequencing in an Italian family with Alzheimer's disease points to a role for seizure-related gene 6 (SEZ6) rare variant R615H.

Alzheimer'S Research & Therapy
L Paracchini, L Beltrame, L Boeri, F Fusco, P Caffarra, S Marchini, D Albani, G Forloni
Publication Date: 2018-10-12

Variant appearance in text: rs45508991
PubMed Link: 30309378
Variant Present in the following documents:
  • 13195_2018_435_MOESM1_ESM.xlsx
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: 2177C>T; Thr726Ile
PubMed Link: 29874871
Variant Present in the following documents:
  • Main text
View BVdb publication page



Family-specific aggregation of lipid GWAS variants confers the susceptibility to familial hypercholesterolemia in a large Austrian family.

Atherosclerosis
E Nikkola, A Ko, M Alvarez, RM Cantor, K Garske, E Kim, S Gee, A Rodriguez, R Muxel, N Matikainen, S Söderlund, MM Motazacker, J Borén, C Lamina, F Kronenberg, WJ Schneider, A Palotie, M Laakso, MR Taskinen, P Pajukanta
Publication Date: 2017-09

Variant appearance in text: LDLR: 2177C>T; T726I; rs45508991
PubMed Link: 28772107
Variant Present in the following documents:
  • Main text
  • NIHMS896854-supplement.pdf
View BVdb publication page



Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals.

European Journal Of Human Genetics : Ejhg
MS Safarova, EW Klee, LM Baudhuin, EM Winkler, ML Kluge, SJ Bielinski, JE Olson, IJ Kullo
Publication Date: 2017-04

Variant appearance in text: LDLR: 2177C>T; Thr726Ile; rs45508991
PubMed Link: 28145427
Variant Present in the following documents:
  • Main text
  • ejhg2016193x1.docx
  • ejhg2016193x2.xlsx
  • ejhg2016193x6.pdf
View BVdb publication page



Variable expressivity and co-occurrence of LDLR and LDLRAP1 mutations in familial hypercholesterolemia: failure of the dominant and recessive dichotomy.

Molecular Genetics & Genomic Medicine
AC Fahed, R Khalaf, R Salloum, RR Andary, R Safa, I El-Rassy, E Moubarak, ST Azar, FF Bitar, G Nemer
Publication Date: 2016-05

Variant appearance in text: LDLR: T726I
PubMed Link: 27247956
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: LDLR: Thr726Ile
PubMed Link: 26892515
Variant Present in the following documents:
  • Main text
View BVdb publication page



Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.

Journal Of Lipid Research
R Wintjens, D Bozon, K Belabbas, F MBou, JP Girardet, P Tounian, M Jolly, F Boccara, A Cohen, A Karsenty, B Dubern, JC Carel, A Azar-Kolakez, F Feillet, F Labarthe, AM Gorsky, A Horovitz, C Tamarindi, P Kieffer, A Lienhardt, O Lascols, M Di Filippo, F Dufernez
Publication Date: 2016-03

Variant appearance in text: LDLR: Thr726Ile
PubMed Link: 26802169
Variant Present in the following documents:
  • Main text
  • jlrP055699.pdf
View BVdb publication page



Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL-C levels in a latvian population.

Bmc Medical Genetics
I Radovica-Spalvina, G Latkovskis, I Silamikelis, D Fridmanis, I Elbere, K Ventins, G Ozola, A Erglis, J Klovins
Publication Date: 2015-09-28

Variant appearance in text: LDLR: Thr726Ile
PubMed Link: 26415676
Variant Present in the following documents:
  • 12881_2015_230_MOESM1_ESM.doc
View BVdb publication page



A Splice Region Variant in LDLR Lowers Non-high Density Lipoprotein Cholesterol and Protects against Coronary Artery Disease.

Plos Genetics
S Gretarsdottir, H Helgason, A Helgadottir, A Sigurdsson, G Thorleifsson, A Magnusdottir, A Oddsson, V Steinthorsdottir, T Rafnar, J de Graaf, MS Daneshpour, M Hedayati, F Azizi, N Grarup, T Jørgensen, H Vestergaard, T Hansen, G Eyjolfsson, O Sigurdardottir, I Olafsson, LA Kiemeney, O Pedersen, P Sulem, G Thorgeirsson, DF Gudbjartsson, H Holm, U Thorsteinsdottir, K Stefansson
Publication Date: 2015-09

Variant appearance in text: LDLR: Thr726Ile; rs45508991
PubMed Link: 26327206
Variant Present in the following documents:
  • pgen.1005379.s008.xlsx
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: 2177C>T; T726I; rs45508991
PubMed Link: 26036859
Variant Present in the following documents:
  • Main text
View BVdb publication page



Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.

Plos Genetics
AS Thormaehlen, C Schuberth, HH Won, P Blattmann, B Joggerst-Thomalla, S Theiss, R Asselta, S Duga, PA Merlini, D Ardissino, ES Lander, S Gabriel, DJ Rader, GM Peloso, R Pepperkok, S Kathiresan, H Runz
Publication Date: 2015-02

Variant appearance in text: LDLR: T726I
PubMed Link: 25647241
Variant Present in the following documents:
  • Main text
  • pgen.1004855.s008.docx
  • pgen.1004855.s013.docx
  • pgen.1004855.s014.docx
  • pgen.1004855.s018.docx
  • pgen.1004855.s019.xlsx
View BVdb publication page



Genetic heterogeneity of hepatitis C virus cell entry receptors seems to have no influence on selection of virus variants.

Virology Journal
M Lipskoch, M Wiese, J Timm, M Roggendorf, S Viazov
Publication Date: 2014-03-14

Variant appearance in text: rs45508991
PubMed Link: 24628791
Variant Present in the following documents:
  • Main text
View BVdb publication page



Phased whole-genome genetic risk in a family quartet using a major allele reference sequence.

Plos Genetics
FE Dewey, R Chen, SP Cordero, KE Ormond, C Caleshu, KJ Karczewski, M Whirl-Carrillo, MT Wheeler, JT Dudley, JK Byrnes, OE Cornejo, JW Knowles, M Woon, K Sangkuhl, L Gong, CF Thorn, JM Hebert, E Capriotti, SP David, A Pavlovic, A West, JV Thakuria, MP Ball, AW Zaranek, HL Rehm, GM Church, JS West, CD Bustamante, M Snyder, RB Altman, TE Klein, AJ Butte, EA Ashley
Publication Date: 2011-09

Variant appearance in text: rs45508991
PubMed Link: 21935354
Variant Present in the following documents:
  • pgen.1002280.s010.doc
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000252444.5 c.2432C>T p.Thr811Ile missense_variant 15/18 -
ENST00000455727.2 c.1673C>T p.Thr558Ile missense_variant 13/16 -
ENST00000535915.1 c.2054C>T p.Thr685Ile missense_variant 14/17 -
ENST00000545707.1 c.1643C>T p.Thr548Ile missense_variant 13/16 -
ENST00000557933.1 c.2177C>T p.Thr726Ile missense_variant 15/18 -
ENST00000558013.1 c.2177C>T p.Thr726Ile missense_variant 15/18 -
ENST00000558518.1 c.2177C>T p.Thr726Ile missense_variant 15/18 -
NM_000527.5 c.2177C>T p.Thr726Ile missense_variant 15/18 -
NM_001195798.2 c.2177C>T p.Thr726Ile missense_variant 15/18 -
NM_001195799.2 c.2054C>T p.Thr685Ile missense_variant 14/17 -
NM_001195800.2 c.1673C>T p.Thr558Ile missense_variant 13/16 -
NM_001195803.2 c.1643C>T p.Thr548Ile missense_variant 13/16 -