Variant ID: 2-21265322-G-A

NM_000384.2(APOB):c.148C>T;(p.Arg50Trp)

This variant was identified in 6 publications




Publications:


New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia.

Scientific Reports
S Elbitar, D Susan-Resiga, Y Ghaleb, P El Khoury, G Peloso, N Stitziel, JP Rabès, V Carreau, J Hamelin, A Ben-Djoudi-Ouadda, E Bruckert, C Boileau, NG Seidah, M Varret, M Abifadel
Publication Date: 2018-01-31

Variant appearance in text: APOB: Arg50Trp
PubMed Link: 29386597
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Architecture of Familial Hypercholesterolaemia.

Current Cardiology Reports
M Sharifi, M Futema, D Nair, SE Humphries
Publication Date: 2017-05

Variant appearance in text: APOB: Arg50Trp
PubMed Link: 28405938
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity.

Scientific Reports
JA Fernández-Higuero, A Etxebarria, A Benito-Vicente, AC Alves, JL Arrondo, H Ostolaza, M Bourbon, C Martin
Publication Date: 2015-12-08

Variant appearance in text: APOB: Arg50Trp
PubMed Link: 26643808
Variant Present in the following documents:
  • Main text
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: APOB: R50W
PubMed Link: 24987033
Variant Present in the following documents:
  • Main text
  • jmedgenet-2014-102405-s1.pdf
View BVdb publication page



Identification and biochemical analysis of a novel APOB mutation that causes autosomal dominant hypercholesterolemia.

Molecular Genetics & Genomic Medicine
ER Thomas, SS Atanur, PJ Norsworthy, V Encheva, AP Snijders, L Game, J Vandrovcova, A Siddiq, M Seed, AK Soutar, TJ Aitman
Publication Date: 2013-09

Variant appearance in text: APOB: 148C>T; Arg50Trp
PubMed Link: 24498611
Variant Present in the following documents:
  • Main text
  • mgg30001-0155-SD2.docx
View BVdb publication page



Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia.

Journal Of Medical Genetics
M Futema, V Plagnol, RA Whittall, HA Neil, , SE Humphries,
Publication Date: 2012-10

Variant appearance in text: APOB: 148C>T; R50W
PubMed Link: 23054246
Variant Present in the following documents:
  • jmedgenet-2012-101189-s1.pdf
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000233242.1 c.148C>T p.Arg50Trp missense_variant 3/29 -
ENST00000399256.4 c.148C>T p.Arg50Trp missense_variant 3/17 -
NM_000384.3 c.148C>T p.Arg50Trp missense_variant 3/29 -