IDUA c.1269C>A ;(p.S423R)

Variant ID: 4-996599-C-A

NM_000203.3(IDUA):c.1269C>A;(p.S423R)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Mucopolysaccharidosis Type I.

Diagnostics (Basel, Switzerland)
Kubaski, Francyne F; de Oliveira Poswar, Fabiano F; Michelin-Tirelli, Kristiane K; Matte, Ursula da Silveira UDS; Horovitz, Dafne D DD; Barth, Anneliese Lopes AL; Baldo, Guilherme G; Vairo, Filippo F; Giugliani, Roberto R
Publication Date: 2020-03-16

Variant appearance in text: IDUA: Ser423Arg
PubMed Link: 32188113
Variant Present in the following documents:
  • Main text
  • diagnostics-10-00161.pdf
View BVdb publication page



Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry.

Clinical Genetics
Clarke, Lorne A LA; Giugliani, Roberto R; Guffon, Nathalie N; Jones, Simon A SA; Keenan, Hillary A HA; Munoz-Rojas, Maria V MV; Okuyama, Torayuki T; Viskochil, David D; Whitley, Chester B CB; Wijburg, Frits A FA; Muenzer, Joseph J
Publication Date: 2019-10

Variant appearance in text: IDUA: S423R
PubMed Link: 31194252
Variant Present in the following documents:
  • Main text
  • CGE-96-281.pdf
View BVdb publication page



Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell
Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD
Publication Date: 2018-05-14

Variant appearance in text: IDUA: S423R
PubMed Link: 29657128
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
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: S423R
PubMed Link: 28676128
Variant Present in the following documents:
  • Main text
  • 13023_2017_Article_678.pdf
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: IDUA: S423R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Insights into mucopolysaccharidosis I from the structure and action of α-L-iduronidase.

Nature Chemical Biology
Bie, Haiying H; Yin, Jiang J; He, Xu X; Kermode, Allison R AR; Goddard-Borger, Ethan D ED; Withers, Stephen G SG; James, Michael N G MN
Publication Date: 2013-11

Variant appearance in text: IDUA: S423R
PubMed Link: 24036510
Variant Present in the following documents:
  • NIHMS3970-supplement-1.pdf
View BVdb publication page