GAA c.1696T>C ;(p.S566P)

Variant ID: 17-78085841-T-C

NM_000152.3(GAA):c.1696T>C;(p.S566P)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Two Approaches for a Genetic Analysis of Pompe Disease: A Literature Review of Patients with Pompe Disease and Analysis Based on Genomic Data from the General Population.

Children (Basel, Switzerland)
Park, Kyung-Sun KS
Publication Date: 2021-07-16

Variant appearance in text: GAA: 1696T>C; Ser566Pro
PubMed Link: 34356580
Variant Present in the following documents:
  • Main text
  • children-08-00601.pdf
View BVdb publication page



Genome scale analysis of pathogenic variants targetable for single base editing.

Bmc Medical Genomics
Lavrov, Alexander V AV; Varenikov, Georgi G GG; Skoblov, Mikhail Yu MY
Publication Date: 2020-09-18

Variant appearance in text: GAA: 1696T>C
PubMed Link: 32948190
Variant Present in the following documents:
  • 12920_2020_735_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



[Research advances in the diagnosis and treatment of Pompe disease].

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal Of Contemporary Pediatrics
Zhang, Xin-Tong XT; Ren, Wei-Dong WD
Publication Date: 2018-07

Variant appearance in text: GAA: 1696T>C; S566P
PubMed Link: 30022764
Variant Present in the following documents:
  • Main text
View BVdb publication page



A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan.

Molecular Genetics And Metabolism Reports
Fukuhara, Yasuyuki Y; Fuji, Naoko N; Yamazaki, Narutoshi N; Hirakiyama, Asami A; Kamioka, Tetsuharu T; Seo, Joo-Hyun JH; Mashima, Ryuichi R; Kosuga, Motomichi M; Okuyama, Torayuki T
Publication Date: 2018-03

Variant appearance in text: GAA: S566P
PubMed Link: 29124014
Variant Present in the following documents:
  • Main text
  • main.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: S566P
PubMed Link: 29061980
Variant Present in the following documents:
  • 41467_2017_1263_MOESM1_ESM.pdf
View BVdb publication page



Divergent clinical outcomes of alpha-glucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state.

Molecular Genetics And Metabolism Reports
Matsuoka, Takashi T; Miwa, Yoshiyuki Y; Tajika, Makiko M; Sawada, Madoka M; Fujimaki, Koichiro K; Soga, Takashi T; Tomita, Hideshi H; Uemura, Shigeru S; Nishino, Ichizo I; Fukuda, Tokiko T; Sugie, Hideo H; Kosuga, Motomichi M; Okuyama, Torayuki T; Umeda, Yoh Y
Publication Date: 2016-12

Variant appearance in text: GAA: S566P
PubMed Link: 27896132
Variant Present in the following documents:
  • Main text
  • main.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: S566P
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page