IDUA c.1511T>C ;(p.M504T)

Variant ID: 4-996932-T-C

NM_000203.3(IDUA):c.1511T>C;(p.M504T)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: M504T
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: M504T
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: M504T
PubMed Link: 24036510
Variant Present in the following documents:
  • NIHMS3970-supplement-1.pdf
View BVdb publication page