GAA c.1781G>A ;(p.R594H)

Variant ID: 17-78086403-G-A

NM_000152.3(GAA):c.1781G>A;(p.R594H)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation.

Frontiers In Genetics
Cesar, Sergi S; Coll, Monica M; Fiol, Victoria V; Fernandez-Falgueras, Anna A; Cruzalegui, Jose J; Iglesias, Anna A; Moll, Isaac I; Perez-Serra, Alexandra A; Martínez-Barrios, Estefanía E; Ferrer-Costa, Carles C; Del Olmo, Bernat B; Puigmulè, Marta M; Alcalde, Mireia M; Lopez, Laura L; Pico, Ferran F; Berrueco, Rubén R; Brugada, Josep J; Zschaeck, Irene I; Natera-de Benito, Daniel D; Carrera-García, Laura L; Exposito-Escudero, Jessica J; Ortez, Carlos C; Nascimento, Andrés A; Brugada, Ramon R; Sarquella-Brugada, Georgia G; Campuzano, Oscar O
Publication Date: 2023

Variant appearance in text: GAA: 1781G>A; Arg594His; rs775450536
PubMed Link: 37035729
Variant Present in the following documents:
  • Main text
  • fgene-14-1135438.pdf
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: GAA: R594H
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: GAA: R594H
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



Different Approaches to Analyze Muscle Fat Replacement With Dixon MRI in Pompe Disease.

Frontiers In Neurology
Alonso-Jiménez, Alicia A; Nuñez-Peralta, Claudia C; Montesinos, Paula P; Alonso-Pérez, Jorge J; García, Carme C; Montiel, Elena E; Belmonte, Izaskun I; Pedrosa, Irene I; Segovia, Sonia S; Llauger, Jaume J; Díaz-Manera, Jordi J
Publication Date: 2021

Variant appearance in text: GAA: 1781G>A
PubMed Link: 34305788
Variant Present in the following documents:
  • Main text
  • fneur-12-675781.pdf
View BVdb publication page



The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: GAA: 1781G>A; Arg594His; rs775450536
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants.

International Journal Of Neonatal Screening
Burton, Barbara K BK; Charrow, Joel J; Hoganson, George E GE; Fleischer, Julie J; Grange, Dorothy K DK; Braddock, Stephen R SR; Hitchins, Lauren L; Hickey, Rachel R; Christensen, Katherine M KM; Groepper, Daniel D; Shryock, Heather H; Smith, Pamela P; Shao, Rong R; Basheeruddin, Khaja K
Publication Date: 2020-03

Variant appearance in text: GAA: 1781G>A
PubMed Link: 33073003
Variant Present in the following documents:
  • Main text
  • IJNS-06-00004.pdf
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: GAA: R594H
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
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: 1781G>A; Arg594His
PubMed Link: 31342611
Variant Present in the following documents:
  • HUMU-40-2146-s001.pdf
View BVdb publication page



Quantitative muscle MRI to follow up late onset Pompe patients: a prospective study.

Scientific Reports
Figueroa-Bonaparte, Sebastian S; Llauger, Jaume J; Segovia, Sonia S; Belmonte, Izaskun I; Pedrosa, Irene I; Montiel, Elena E; Montesinos, Paula P; Sánchez-González, Javier J; Alonso-Jiménez, Alicia A; Gallardo, Eduard E; Illa, Isabel I; , ; Díaz-Manera, Jordi J
Publication Date: 2018-07-18

Variant appearance in text: GAA: 1781G>A
PubMed Link: 30022036
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_29170.pdf
View BVdb publication page



Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease.

Nature Communications
Roig-Zamboni, Véronique V; Cobucci-Ponzano, Beatrice B; Iacono, Roberta R; Ferrara, Maria Carmina MC; Germany, Stanley S; Bourne, Yves Y; Parenti, Giancarlo G; Moracci, Marco M; Sulzenbacher, Gerlind G
Publication Date: 2017-10-24

Variant appearance in text: GAA: R594H
PubMed Link: 29061980
Variant Present in the following documents:
  • 41467_2017_1263_MOESM1_ESM.pdf
View BVdb publication page



Muscle MRI Findings in Childhood/Adult Onset Pompe Disease Correlate with Muscle Function.

Plos One
Figueroa-Bonaparte, Sebastián S; Segovia, Sonia S; Llauger, Jaume J; Belmonte, Izaskun I; Pedrosa, Irene I; Alejaldre, Aída A; Mayos, Mercè M; Suárez-Cuartín, Guillermo G; Gallardo, Eduard E; Illa, Isabel I; Díaz-Manera, Jordi J; ,
Publication Date: 2016

Variant appearance in text: GAA: 1781G>A
PubMed Link: 27711114
Variant Present in the following documents:
  • Main text
  • pone.0163493.pdf
View BVdb publication page



Infantile Pompe disease: A case report and review of the Chinese literature.

Experimental And Therapeutic Medicine
Liu, Yun Y; Yang, Yang Y; Wang, Beibei B; Wu, Lizhi L; Liang, Honglu H; Kan, Qing Q; Cao, Zhaolan Z; Zhao, Youyan Y; Zhou, Xiaoyu X
Publication Date: 2016-01

Variant appearance in text: GAA: R594H
PubMed Link: 26889246
Variant Present in the following documents:
  • Main text
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: R594H
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation.

Bmc Medical Genetics
Liu, Xiao X; Wang, Zhaoxia Z; Jin, Weina W; Lv, He H; Zhang, Wei W; Que, Chengli C; Huang, Yu Y; Yuan, Yun Y
Publication Date: 2014-12-20

Variant appearance in text: GAA: 1781G>A
PubMed Link: 25526786
Variant Present in the following documents:
  • Main text
  • 12881_2014_Article_141.pdf
View BVdb publication page