GAA c.1724A>C ;(p.Y575S)

Variant ID: 17-78085869-A-C

NM_000152.3(GAA):c.1724A>C;(p.Y575S)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Pharmacological Chaperone Therapy for Pompe Disease.

Molecules (Basel, Switzerland)
Borie-Guichot, Marc M; Tran, My Lan ML; Génisson, Yves Y; Ballereau, Stéphanie S; Dehoux, Cécile C
Publication Date: 2021-11-29

Variant appearance in text: GAA: Y575S
PubMed Link: 34885805
Variant Present in the following documents:
  • Main text
  • molecules-26-07223.pdf
View BVdb publication page



Pharmacological Chaperone Therapy for Pompe Disease.

Molecules (Basel, Switzerland)
Borie-Guichot, Marc M; Tran, My Lan ML; Génisson, Yves Y; Ballereau, Stéphanie S; Dehoux, Cécile C
Publication Date: 2021-11-29

Variant appearance in text: GAA: Y575S
PubMed Link: 34885805
Variant Present in the following documents:
  • Main text
  • molecules-26-07223.pdf
View BVdb publication page



GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.

Human Mutation
Reuser, Arnold J J AJJ; van der Ploeg, Ans T AT; Chien, Yin-Hsiu YH; Llerena, Juan J; Abbott, Mary-Alice MA; Clemens, Paula R PR; Kimonis, Virginia E VE; Leslie, Nancy N; Maruti, Sonia S SS; Sanson, Bernd-Jan BJ; Araujo, Roberto R; Periquet, Magali M; Toscano, Antonio A; Kishnani, Priya S PS; On Behalf Of The Pompe Registry Sites,
Publication Date: 2019-11

Variant appearance in text: GAA: 1724A>C
PubMed Link: 31342611
Variant Present in the following documents:
  • Main text
  • HUMU-40-2146-s001.pdf
  • HUMU-40-2146.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: GAA: Y575S
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



Enzyme enhancers for the treatment of Fabry and Pompe disease.

Molecular Therapy : The Journal Of The American Society Of Gene Therapy
Lukas, Jan J; Pockrandt, Anne-Marie AM; Seemann, Susanne S; Sharif, Muhammad M; Runge, Franziska F; Pohlers, Susann S; Zheng, Chaonan C; Gläser, Anne A; Beller, Matthias M; Rolfs, Arndt A; Giese, Anne-Katrin AK
Publication Date: 2015-03

Variant appearance in text: GAA: Y575S
PubMed Link: 25409744
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research
Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH
Publication Date: 2009-03

Variant appearance in text: GAA: Y575S
PubMed Link: 19139070
Variant Present in the following documents:
  • gkn1008_nar-01723-s-2008-File009.xls, sheet 1
View BVdb publication page