IDUA c.1883G>C ;(p.R628P)

Variant ID: 4-998102-G-C

NM_000203.3(IDUA):c.1883G>C;(p.R628P)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


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: rs200448421
PubMed Link: 33208168
Variant Present in the following documents:
  • 13023_2020_1608_MOESM4_ESM.xlsx, sheet 2
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: R628P; rs200448421
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: R628P
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: R628P
PubMed Link: 24036510
Variant Present in the following documents:
  • NIHMS3970-supplement-1.pdf
View BVdb publication page



Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.

American Journal Of Medical Genetics. Part A
Vazna, Alzbeta A; Beesley, Clare C; Berna, Linda L; Stolnaja, Larisa L; Myskova, Helena H; Bouckova, Michaela M; Vlaskova, Hana H; Poupetova, Helena H; Zeman, Jiri J; Magner, Martin M; Hlavata, Anna A; Winchester, Bryan B; Hrebicek, Martin M; Dvorakova, Lenka L
Publication Date: 2009-05

Variant appearance in text: IDUA: R628P
PubMed Link: 19396826
Variant Present in the following documents:
  • Main text
  • ajmg0149A-0965.pdf
View BVdb publication page