IDUA c.1029C>A ;(p.Y343*)

Variant ID: 4-996113-C-A

NM_000203.3(IDUA):c.1029C>A;(p.Y343*)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: IDUA: 1029C>A; Tyr343Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Mucopolysaccharidosis Type I in the Russian Federation and Other Republics of the Former Soviet Union: Molecular Genetic Analysis and Epidemiology.

Frontiers In Molecular Biosciences
Voskoboeva, E Yu EY; Bookina, T M TM; Semyachkina, A N AN; Mikhaylova, S V SV; Vashakmadze, N D ND; Baydakova, G V GV; Zakharova, E Yu EY; Kutsev, S I SI
Publication Date: 2021

Variant appearance in text: IDUA: 1029C>A; Tyr343Ter
PubMed Link: 35141277
Variant Present in the following documents:
  • Main text
  • fmolb-08-783644.pdf
View BVdb publication page



Molecular Insights into Determinants of Translational Readthrough and Implications for Nonsense Suppression Approaches.

International Journal Of Molecular Sciences
Lombardi, Silvia S; Testa, Maria Francesca MF; Pinotti, Mirko M; Branchini, Alessio A
Publication Date: 2020-12-11

Variant appearance in text: IDUA: Y343X
PubMed Link: 33322589
Variant Present in the following documents:
  • Main text
  • ijms-21-09449.pdf
View BVdb publication page



Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes.

Orphanet Journal Of Rare Diseases
Borges, Pâmella P; Pasqualim, Gabriela G; Giugliani, Roberto R; Vairo, Filippo F; Matte, Ursula U
Publication Date: 2020-11-18

Variant appearance in text: rs764196171
PubMed Link: 33208168
Variant Present in the following documents:
  • 13023_2020_1608_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Neurocognitive and somatic stabilization in pediatric patients with severe Mucopolysaccharidosis Type I after 52 weeks of intravenous brain-penetrating insulin receptor antibody-iduronidase fusion protein (valanafusp alpha): an open label phase 1-2 trial.

Orphanet Journal Of Rare Diseases
Giugliani, Roberto R; Giugliani, Luciana L; de Oliveira Poswar, Fabiano F; Donis, Karina Carvalho KC; Corte, Amauri Dalla AD; Schmidt, Mathias M; Boado, Ruben J RJ; Nestrasil, Igor I; Nguyen, Carol C; Chen, Steven S; Pardridge, William M WM
Publication Date: 2018-07-05

Variant appearance in text: IDUA: Y343X
PubMed Link: 29976218
Variant Present in the following documents:
  • Main text
  • 13023_2018_Article_849.pdf
View BVdb publication page



Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

Nature Genetics
Jin, Sheng Chih SC; Homsy, Jason J; Zaidi, Samir S; Lu, Qiongshi Q; Morton, Sarah S; DePalma, Steven R SR; Zeng, Xue X; Qi, Hongjian H; Chang, Weni W; Sierant, Michael C MC; Hung, Wei-Chien WC; Haider, Shozeb S; Zhang, Junhui J; Knight, James J; Bjornson, Robert D RD; Castaldi, Christopher C; Tikhonoa, Irina R IR; Bilguvar, Kaya K; Mane, Shrikant M SM; Sanders, Stephan J SJ; Mital, Seema S; Russell, Mark W MW; Gaynor, J William JW; Deanfield, John J; Giardini, Alessandro A; Porter, George A GA; Srivastava, Deepak D; Lo, Cecelia W CW; Shen, Yufeng Y; Watkins, W Scott WS; Yandell, Mark M; Yost, H Joseph HJ; Tristani-Firouzi, Martin M; Newburger, Jane W JW; Roberts, Amy E AE; Kim, Richard R; Zhao, Hongyu H; Kaltman, Jonathan R JR; Goldmuntz, Elizabeth E; Chung, Wendy K WK; Seidman, Jonathan G JG; Gelb, Bruce D BD; Seidman, Christine E CE; Lifton, Richard P RP; Brueckner, Martina M
Publication Date: 2017-11

Variant appearance in text: IDUA: Y343X
PubMed Link: 28991257
Variant Present in the following documents:
  • NIHMS906719-supplement-supp_datasets.xlsx, sheet 7
View BVdb publication page



Phenotype prediction for mucopolysaccharidosis type I by in silico analysis.

Orphanet Journal Of Rare Diseases
Ou, Li L; Przybilla, Michael J MJ; Whitley, Chester B CB
Publication Date: 2017-07-04

Variant appearance in text: IDUA: Y343X
PubMed Link: 28676128
Variant Present in the following documents:
  • Main text
  • 13023_2017_Article_678.pdf
View BVdb publication page



Nonsense Suppression as an Approach to Treat Lysosomal Storage Diseases.

Diseases (Basel, Switzerland)
Keeling, Kim M KM
Publication Date: 2016-12

Variant appearance in text: IDUA: Y343X
PubMed Link: 28367323
Variant Present in the following documents:
  • Main text
  • diseases-04-00032.pdf
View BVdb publication page



An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life.

Orphanet Journal Of Rare Diseases
Kingma, Sandra D K SD; Langereis, Eveline J EJ; de Klerk, Clasine M CM; Zoetekouw, Lida L; Wagemans, Tom T; IJlst, Lodewijk L; Wanders, Ronald J A RJ; Wijburg, Frits A FA; van Vlies, Naomi N
Publication Date: 2013-07-09

Variant appearance in text: IDUA: Y343X
PubMed Link: 23837464
Variant Present in the following documents:
  • Main text
  • 1750-1172-8-99.pdf
View BVdb publication page



Readthrough strategies for therapeutic suppression of nonsense mutations in inherited metabolic disease.

Molecular Syndromology
Pérez, B B; Rodríguez-Pombo, P P; Ugarte, M M; Desviat, L R LR
Publication Date: 2012-11

Variant appearance in text: IDUA: Y343X
PubMed Link: 23293581
Variant Present in the following documents:
  • Main text
View BVdb publication page



Three novel α-L-iduronidase mutations in 10 unrelated Chinese mucopolysaccharidosis type I families.

Genetics And Molecular Biology
Sun, Luning L; Li, Chunyi C; Song, Xiaoyu X; Zheng, Ningning N; Zhang, Haipeng H; Dong, Guizhang G
Publication Date: 2011-04

Variant appearance in text: IDUA: Y343X
PubMed Link: 21734815
Variant Present in the following documents:
  • Main text
  • gmb-34-2-195.pdf
View BVdb publication page