GAA c.1688A>T ;(p.Q563L)

Variant ID: 17-78085833-A-T

NM_000152.3(GAA):c.1688A>T;(p.Q563L)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology
Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G
Publication Date: 2023-04-22

Variant appearance in text: GAA: 1688A>T; Q563L
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.

Human Mutation
de Faria, Douglas O S DOS; 't Groen, Stijn L M In SLMI; Hoogeveen-Westerveld, Marianne M; Nino, Monica Y MY; van der Ploeg, Ans T AT; Bergsma, Atze J AJ; Pijnappel, W W M Pim WWMP
Publication Date: 2021-02

Variant appearance in text: GAA: 1688A>T
PubMed Link: 33560568
Variant Present in the following documents:
  • Main text
  • HUMU-42-119.pdf
View BVdb publication page



Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.

Human Mutation
de Faria, Douglas O S DOS; 't Groen, Stijn L M In SLMI; Hoogeveen-Westerveld, Marianne M; Nino, Monica Y MY; van der Ploeg, Ans T AT; Bergsma, Atze J AJ; Pijnappel, W W M Pim WWMP
Publication Date: 2021-02

Variant appearance in text: GAA: 1688A>T
PubMed Link: 33560568
Variant Present in the following documents:
  • Main text
  • HUMU-42-119.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: 1688A>T; Gln563Leu
PubMed Link: 31342611
Variant Present in the following documents:
  • Main text
View BVdb publication page



Skeletal muscle metabolism during prolonged exercise in Pompe disease.

Endocrine Connections
Preisler, Nicolai N; LaforĂȘt, Pascal P; Madsen, Karen Lindhardt KL; Husu, Edith E; Vissing, Christoffer Rasmus CR; Hedermann, Gitte G; Galbo, Henrik H; Lindberg, Christopher C; Vissing, John J
Publication Date: 2017-08

Variant appearance in text: GAA: 1688A>T
PubMed Link: 28490439
Variant Present in the following documents:
  • ec-6-384.pdf
View BVdb publication page



Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients.

Scientific Reports
Masat, Elisa E; LaforĂȘt, Pascal P; De Antonio, Marie M; Corre, Guillaume G; Perniconi, Barbara B; Taouagh, Nadjib N; Mariampillai, Kuberaka K; Amelin, Damien D; Mauhin, Wladimir W; Hogrel, Jean-Yves JY; Caillaud, Catherine C; Ronzitti, Giuseppe G; Puzzo, Francesco F; Kuranda, Klaudia K; Colella, Pasqualina P; Mallone, Roberto R; Benveniste, Olivier O; Mingozzi, Federico F; ,
Publication Date: 2016-11-04

Variant appearance in text: GAA: 1688A>T
PubMed Link: 27812025
Variant Present in the following documents:
  • srep36182-s1.pdf
View BVdb publication page