GAA c.761C>T ;(p.S254L)

Variant ID: 17-78081424-C-T

NM_000152.3(GAA):c.761C>T;(p.S254L)

This variant was identified in 30 publications

View GRCh38 version.




Publications:


Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E.

The Journal Of Clinical Investigation
Li, Chengcheng C; Wilborn, Jackson J; Pittman, Sara S; Daw, Jil J; Alonso-Pérez, Jorge J; Díaz-Manera, Jordi J; Weihl, Conrad C CC; Haller, Gabe G
Publication Date: 2023-06-15

Variant appearance in text: GAA: S254L
PubMed Link: 37317968
Variant Present in the following documents:
  • jci-133-168156-s148.xlsx, sheet 2
View BVdb publication page



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: 761C>T
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China.

World Journal Of Pediatrics : Wjp
Yang, Ru-Lai RL; Qian, Gu-Ling GL; Wu, Ding-Wen DW; Miao, Jing-Kun JK; Yang, Xue X; Wu, Ben-Qing BQ; Yan, Ya-Qiong YQ; Li, Hai-Bo HB; Mao, Xin-Mei XM; He, Jun J; Shen, Huan H; Zou, Hui H; Xue, Shu-Yuan SY; Li, Xiao-Ze XZ; Niu, Ting-Ting TT; Xiao, Rui R; Zhao, Zheng-Yan ZY
Publication Date: 2023-02-27

Variant appearance in text: GAA: 761C>T
PubMed Link: 36847978
Variant Present in the following documents:
  • 12519_2022_Article_670.pdf
View BVdb publication page



Analysis of clinically relevant variants from ancestrally diverse Asian genomes.

Nature Communications
Chan, Sock Hoai SH; Bylstra, Yasmin Y; Teo, Jing Xian JX; Kuan, Jyn Ling JL; Bertin, Nicolas N; Gonzalez-Porta, Mar M; Hebrard, Maxime M; Tirado-Magallanes, Roberto R; Tan, Joanna Hui Juan JHJ; Jeyakani, Justin J; Li, Zhihui Z; Chai, Jin Fang JF; Chong, Yap Seng YS; Davila, Sonia S; Goh, Liuh Ling LL; Lee, Eng Sing ES; Wong, Eleanor E; Wong, Tien Yin TY; , ; Prabhakar, Shyam S; Liu, Jianjun J; Cheng, Ching-Yu CY; Eisenhaber, Birgit B; Karnani, Neerja N; Leong, Khai Pang KP; Sim, Xueling X; Yeo, Khung Keong KK; Chambers, John C JC; Tai, E-Shyong ES; Tan, Patrick P; Jamuar, Saumya S SS; Ngeow, Joanne J; Lim, Weng Khong WK
Publication Date: 2022-11-05

Variant appearance in text: GAA: 761C>T
PubMed Link: 36335097
Variant Present in the following documents:
  • 41467_2022_Article_34116.pdf
View BVdb publication page



Gene Panel Sequencing Identifies a Novel <i>RYR1</i> p.Ser2300Pro Variant as Candidate for Malignant Hyperthermia with Multi-Minicore Myopathy.

Genes
Moon, Young Jae YJ; Park, Joonhong J; Kim, Jung Ryul JR; Lee, Seung Yeob SY; Lee, Jaehyeon J; Cho, Yong Gon YG; Kim, Dal Sik DS
Publication Date: 2022-09-26

Variant appearance in text: GAA: 761C>T; Ser254Leu; rs577915581
PubMed Link: 36292611
Variant Present in the following documents:
  • genes-13-01726.pdf
View BVdb publication page



Genomic evolution towards azole resistance in Candida glabrata clinical isolates unveils the importance of CgHxt4/6/7 in azole accumulation.

Communications Biology
Galocha, Mónica M; Viana, Romeu R; Pais, Pedro P; Silva-Dias, Ana A; Cavalheiro, Mafalda M; Miranda, Isabel M IM; Van Ende, Mieke M; Souza, Caio S CS; Costa, Catarina C; Branco, Joana J; Soares, Cláudio M CM; Van Dijck, Patrick P; Rodrigues, Acácio G AG; Teixeira, Miguel C MC
Publication Date: 2022-10-21

Variant appearance in text: GAA: 761C>T
PubMed Link: 36271293
Variant Present in the following documents:
  • 42003_2022_4087_MOESM4_ESM.xlsx, sheet 5
View BVdb publication page



Establishment of Cutoff Values for Newborn Screening of Six Lysosomal Storage Disorders by Tandem Mass Spectrometry.

Frontiers In Pediatrics
Li, Ruotong R; Tian, Liping L; Gao, Qing Q; Guo, Yuanfang Y; Li, Gaijie G; Li, Yulin Y; Sun, Meng M; Yan, Yan Y; Li, Qing Q; Nie, Wenying W; Zou, Hui H
Publication Date: 2022

Variant appearance in text: GAA: 761C>T
PubMed Link: 35419325
Variant Present in the following documents:
  • Main text
  • fped-10-814461.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: rs577915581
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: rs577915581
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.

European Journal Of Human Genetics : Ejhg
Schröter, Julian J; Popp, Bernt B; Brennenstuhl, Heiko H; Döring, Jan H JH; Donze, Stephany H SH; Bijlsma, Emilia K EK; van Haeringen, Arie A; Huhle, Dagmar D; Jestaedt, Leonie L; Merkenschlager, Andreas A; Arelin, Maria M; Gräfe, Daniel D; Neuser, Sonja S; Oates, Stephanie S; Pal, Deb K DK; Parker, Michael J MJ; Lemke, Johannes R JR; Hoffmann, Georg F GF; Kölker, Stefan S; Harting, Inga I; Syrbe, Steffen S
Publication Date: 2022-03

Variant appearance in text: GAA: 761C>T
PubMed Link: 35017693
Variant Present in the following documents:
  • 41431_2021_1027_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Current status of newborn screening for Pompe disease in Japan.

Orphanet Journal Of Rare Diseases
Sawada, Takaaki T; Kido, Jun J; Sugawara, Keishin K; Momosaki, Ken K; Yoshida, Shinichiro S; Kojima-Ishii, Kanako K; Inoue, Takahito T; Matsumoto, Shirou S; Endo, Fumio F; Ohga, Shouichi S; Hirose, Shinichi S; Nakamura, Kimitoshi K
Publication Date: 2021-12-18

Variant appearance in text: GAA: S254L; rs577915581
PubMed Link: 34922579
Variant Present in the following documents:
  • Main text
  • 13023_2021_Article_2146.pdf
View BVdb publication page



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: 761C>T; Ser254Leu
PubMed Link: 34356580
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy.

Orphanet Journal Of Rare Diseases
Hsueh, Chien-Yu CY; Huang, Chii-Yuan CY; Yang, Chia-Feng CF; Chang, Chia-Chen CC; Lin, Wei-Sheng WS; Cheng, Hsiu-Lien HL; Wu, Shang-Liang SL; Cheng, Yen-Fu YF; Niu, Dau-Ming DM
Publication Date: 2021-08-05

Variant appearance in text: GAA: 761C>T; S254L
PubMed Link: 34353347
Variant Present in the following documents:
  • Main text
  • 13023_2021_Article_1817.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: 761C>T; Ser254Leu; rs577915581
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database.

Molecular Genetics And Metabolism Reports
Park, Kyung Sun KS
Publication Date: 2021-06

Variant appearance in text: GAA: 761C>T; Ser254Leu
PubMed Link: 33717985
Variant Present in the following documents:
  • Main text
  • mmc1.xlsx, sheet 1
  • main.pdf
View BVdb publication page



Newborn Screening for Pompe Disease.

International Journal Of Neonatal Screening
Sawada, Takaaki T; Kido, Jun J; Nakamura, Kimitoshi K
Publication Date: 2020-06

Variant appearance in text: GAA: S254L
PubMed Link: 33073027
Variant Present in the following documents:
  • Main text
  • IJNS-06-00031.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: S254L
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders.

International Journal Of Neonatal Screening
Sanders, Karen A KA; Gavrilov, Dimitar K DK; Oglesbee, Devin D; Raymond, Kimiyo M KM; Tortorelli, Silvia S; Hopwood, John J JJ; Lorey, Fred F; Majumdar, Ramanath R; Kroll, Charles A CA; McDonald, Amber M AM; Lacey, Jean M JM; Turgeon, Coleman T CT; Tucker, Justin N JN; Tang, Hao H; Currier, Robert R; Isaya, Grazia G; Rinaldo, Piero P; Matern, Dietrich D
Publication Date: 2020-06

Variant appearance in text: GAA: 761C>T; S254L
PubMed Link: 32802993
Variant Present in the following documents:
  • Main text
  • IJNS-06-00044.pdf
View BVdb publication page



Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT
Publication Date: 2020-02-11

Variant appearance in text: GAA: 761C>T; Ser254Leu
PubMed Link: 31980526
Variant Present in the following documents:
  • pnas.1909378117.sd01.xlsx, sheet 3
View BVdb publication page



Dysregulation of neuron differentiation in an autistic savant with exceptional memory.

Molecular Brain
Song, Jinjing J; Yang, Xiujuan X; Zhou, Ying Y; Chen, Lei L; Zhang, Xu X; Liu, Zhuxi Z; Niu, Weibo W; Zhan, Nengpeng N; Fan, Xuelian X; Khan, Abdul Aziz AA; Kuang, Yifang Y; Song, Lulu L; He, Guang G; Li, Weidong W
Publication Date: 2019-11-07

Variant appearance in text: GAA: S254L; rs577915581
PubMed Link: 31699123
Variant Present in the following documents:
  • 13041_2019_507_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Implementation of a Targeted Next-Generation Sequencing Panel for Constitutional Newborn Screening in High-Risk Neonates.

Yonsei Medical Journal
Lee, Hyunjoo H; Lim, Joohee J; Shin, Jeong Eun JE; Eun, Ho Sun HS; Park, Min Soo MS; Park, Kook In KI; Namgung, Ran R; Lee, Jin Sung JS
Publication Date: 2019-11

Variant appearance in text: GAA: 761C>T; Ser254Leu
PubMed Link: 31637888
Variant Present in the following documents:
  • Main text
  • ymj-60-1061.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: 761C>T; Ser254Leu
PubMed Link: 31342611
Variant Present in the following documents:
  • HUMU-40-2146-s001.pdf
View BVdb publication page



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: GAA: 761C>T; Ser254Leu
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
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: S254L
PubMed Link: 29124014
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.

Molecular Genetics And Metabolism
Mori, Mari M; Haskell, Gloria G; Kazi, Zoheb Z; Zhu, Xiaolin X; DeArmey, Stephanie M SM; Goldstein, Jennifer L JL; Bali, Deeksha D; Rehder, Catherine C; Cirulli, Elizabeth T ET; Kishnani, Priya S PS
Publication Date: 2017-12

Variant appearance in text: GAA: 761C>T; Ser254Leu
PubMed Link: 29122469
Variant Present in the following documents:
  • Main text
View BVdb publication page



Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease.

Clinical Chemistry
Lin, Na N; Huang, Jingyu J; Violante, Sara S; Orsini, Joseph J JJ; Caggana, Michele M; Hughes, Erin E EE; Stevens, Colleen C; DiAntonio, Lisa L; Chieh Liao, Hsuan H; Hong, Xinying X; Ghomashchi, Farideh F; Babu Kumar, Arun A; Zhou, Hui H; Kornreich, Ruth R; Wasserstein, Melissa M; Gelb, Michael H MH; Yu, Chunli C
Publication Date: 2017-04

Variant appearance in text: GAA: S254L
PubMed Link: 28196920
Variant Present in the following documents:
  • Main text
View BVdb publication page



Impact of mutational profiles on response of primary oestrogen receptor-positive breast cancers to oestrogen deprivation.

Nature Communications
Gellert, Pascal P; Segal, Corrinne V CV; Gao, Qiong Q; López-Knowles, Elena E; Martin, Lesley-Ann LA; Dodson, Andrew A; Li, Tiandao T; Miller, Christopher A CA; Lu, Charles C; Mardis, Elaine R ER; Gillman, Alexa A; Morden, James J; Graf, Manuela M; Sidhu, Kally K; Evans, Abigail A; Shere, Michael M; Holcombe, Christopher C; McIntosh, Stuart A SA; Bundred, Nigel N; Skene, Anthony A; Maxwell, William W; Robertson, John J; Bliss, Judith M JM; Smith, Ian I; Dowsett, Mitch M; ,
Publication Date: 2016-11-09

Variant appearance in text: GAA: S254L
PubMed Link: 27827358
Variant Present in the following documents:
  • ncomms13294-s3.xlsx, sheet 1
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: GAA: S254L
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s4.xls, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: GAA: 761C>T; S254L
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
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: S254L
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients.

Acta Neuropathologica Communications
Feeney, Erin J EJ; Austin, Stephanie S; Chien, Yin-Hsiu YH; Mandel, Hanna H; Schoser, Benedikt B; Prater, Sean S; Hwu, Wuh-Liang WL; Ralston, Evelyn E; Kishnani, Priya S PS; Raben, Nina N
Publication Date: 2014-01-02

Variant appearance in text: GAA: 761C>T; Ser254Leu
PubMed Link: 24383498
Variant Present in the following documents:
View BVdb publication page