RYR1 c.14818G>A ;(p.A4940T)

Variant ID: 19-39076592-G-A

NM_000540.2(RYR1):c.14818G>A;(p.A4940T)

This variant was identified in 19 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: RYR1: 14818G>A; Ala4940Thr
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Mutations in proteins involved in E-C coupling and SOCE and congenital myopathies.

The Journal Of General Physiology
Rossi, Daniela D; Catallo, Maria Rosaria MR; Pierantozzi, Enrico E; Sorrentino, Vincenzo V
Publication Date: 2022-09-05

Variant appearance in text: RYR1: A4940T
PubMed Link: 35980353
Variant Present in the following documents:
  • Main text
  • JGP_202213115.pdf
View BVdb publication page



Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.

Acta Neuropathologica Communications
Fusto, Aurora A; Cassandrini, Denise D; Fiorillo, Chiara C; Codemo, Valentina V; Astrea, Guja G; D'Amico, Adele A; Maggi, Lorenzo L; Magri, Francesca F; Pane, Marika M; Tasca, Giorgio G; Sabbatini, Daniele D; Bello, Luca L; Battini, Roberta R; Bernasconi, Pia P; Fattori, Fabiana F; Bertini, Enrico Silvio ES; Comi, Giacomo G; Messina, Sonia S; Mongini, Tiziana T; Moroni, Isabella I; Panicucci, Chiara C; Berardinelli, Angela A; Donati, Alice A; Nigro, Vincenzo V; Pini, Antonella A; Giannotta, Melania M; Dosi, Claudia C; Ricci, Enzo E; Mercuri, Eugenio E; Minervini, Giovanni G; Tosatto, Silvio S; Santorelli, Filippo F; Bruno, Claudio C; Pegoraro, Elena E
Publication Date: 2022-04-15

Variant appearance in text: RYR1: 14818G>A; Ala4940Thr
PubMed Link: 35428369
Variant Present in the following documents:
  • Main text
  • 40478_2022_Article_1357.pdf
View BVdb publication page



Real-World Evaluation of Universal Germline Screening for Cancer Treatment-Relevant Pharmacogenes.

Cancers
Hutchcraft, Megan L ML; Lin, Nan N; Zhang, Shulin S; Sears, Catherine C; Zacholski, Kyle K; Belcher, Elizabeth A EA; Durbin, Eric B EB; Villano, John L JL; Cavnar, Michael J MJ; Arnold, Susanne M SM; Ueland, Frederick R FR; Kolesar, Jill M JM
Publication Date: 2021-09-08

Variant appearance in text: RYR1: 14818G>A
PubMed Link: 34572750
Variant Present in the following documents:
  • Main text
  • cancers-13-04524.pdf
View BVdb publication page



Ryanodine Receptor 1-Related Myopathies: Quantification of Intramuscular Fatty Infiltration from T1-Weighted MRI.

Journal Of Neuromuscular Diseases
Lawal, Tokunbor A TA; Patankar, Aneesh A; Todd, Joshua J JJ; Razaqyar, Muslima S MS; Chrismer, Irene C IC; Zhang, Xuemin X; Waite, Melissa R MR; Jain, Minal S MS; Emile-Backer, Magalie M; Witherspoon, Jessica W JW; Liu, Chia-Ying CY; Grunseich, Christopher C; Meilleur, Katherine G KG
Publication Date: 2021

Variant appearance in text: RYR1: 14818G>A; Ala4940Thr
PubMed Link: 33646171
Variant Present in the following documents:
  • Main text
  • jnd-8-jnd200549.pdf
View BVdb publication page



Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.

Genes
Gonzalez-Quereda, Lidia L; Rodriguez, Maria Jose MJ; Diaz-Manera, Jordi J; Alonso-Perez, Jorge J; Gallardo, Eduard E; Nascimento, Andres A; Ortez, Carlos C; Natera-de Benito, Daniel D; Olive, Montse M; Gonzalez-Mera, Laura L; Munain, Adolfo Lopez de AL; Zulaica, Miren M; Poza, Juan Jose JJ; Jerico, Ivonne I; Torne, Laura L; Riera, Pau P; Milisenda, Jose J; Sanchez, Aurora A; Garrabou, Gloria G; Llano, Isabel I; Madruga-Garrido, Marcos M; Gallano, Pia P
Publication Date: 2020-05-11

Variant appearance in text: RYR1: 14818G>A; Ala4940Thr
PubMed Link: 32403337
Variant Present in the following documents:
  • genes-11-00539-s001.pdf
View BVdb publication page



Intracellular calcium leak as a therapeutic target for RYR1-related myopathies.

Acta Neuropathologica
Kushnir, Alexander A; Todd, Joshua J JJ; Witherspoon, Jessica W JW; Yuan, Qi Q; Reiken, Steven S; Lin, Harvey H; Munce, Ross H RH; Wajsberg, Benjamin B; Melville, Zephan Z; Clarke, Oliver B OB; Wedderburn-Pugh, Kaylee K; Wronska, Anetta A; Razaqyar, Muslima S MS; Chrismer, Irene C IC; Shelton, Monique O MO; Mankodi, Ami A; Grunseich, Christopher C; Tarnopolsky, Mark A MA; Tanji, Kurenai K; Hirano, Michio M; Riazi, Sheila S; Kraeva, Natalia N; Voermans, Nicol C NC; Gruber, Angela A; Allen, Carolyn C; Meilleur, Katherine G KG; Marks, Andrew R AR
Publication Date: 2020-06

Variant appearance in text: RYR1: 14818G>A; Ala4940Thr
PubMed Link: 32236737
Variant Present in the following documents:
  • Main text
View BVdb publication page



Bayesian modeling to predict malignant hyperthermia susceptibility and pathogenicity of RYR1, CACNA1S and STAC3 variants.

Pharmacogenomics
Sadhasivam, Senthilkumar S; Brandom, Barbara W BW; Henker, Richard A RA; McAuliffe, John J JJ
Publication Date: 2019-09

Variant appearance in text: RYR1: Ala4940Thr
PubMed Link: 31559918
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07

Variant appearance in text: RYR1: A4940T; rs118192158
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Correlation of phenotype with genotype and protein structure in RYR1-related disorders.

Journal Of Neurology
Todd, Joshua J JJ; Sagar, Vatsala V; Lawal, Tokunbor A TA; Allen, Carolyn C; Razaqyar, Muslima S MS; Shelton, Monique S MS; Chrismer, Irene C IC; Zhang, Xuemin X; Cosgrove, Mary M MM; Kuo, Anna A; Vasavada, Ruhi R; Jain, Minal S MS; Waite, Melissa M; Rajapakse, Dinusha D; Witherspoon, Jessica W JW; Wistow, Graeme G; Meilleur, Katherine G KG
Publication Date: 2018-11

Variant appearance in text: RYR1: Ala4940Thr
PubMed Link: 30155738
Variant Present in the following documents:
  • Main text
  • 415_2018_Article_9033.pdf
  • 415_2018_9033_MOESM3_ESM.pdf
  • 415_2018_9033_MOESM1_ESM.pdf
View BVdb publication page



Bystro: rapid online variant annotation and natural-language filtering at whole-genome scale.

Genome Biology
Kotlar, Alex V AV; Trevino, Cristina E CE; Zwick, Michael E ME; Cutler, David J DJ; Wingo, Thomas S TS
Publication Date: 2018-02-06

Variant appearance in text: rs118192158
PubMed Link: 29409527
Variant Present in the following documents:
  • 13059_2018_1387_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: RYR1: 14818G>A; Ala4940Thr
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark.

Neurology. Genetics
Witting, Nanna N; Werlauff, Ulla U; Duno, Morten M; Vissing, John J
Publication Date: 2017-04

Variant appearance in text: RYR1: Ala4940Thr
PubMed Link: 28357410
Variant Present in the following documents:
  • NG2016003640.pdf
View BVdb publication page



A variant by any name: quantifying annotation discordance across tools and clinical databases.

Genome Medicine
Yen, Jennifer L JL; Garcia, Sarah S; Montana, Aldrin A; Harris, Jason J; Chervitz, Stephen S; Morra, Massimo M; West, John J; Chen, Richard R; Church, Deanna M DM
Publication Date: 2017-01-26

Variant appearance in text: RYR1: 14818G>A; Ala4940Thr
PubMed Link: 28122645
Variant Present in the following documents:
  • 13073_2016_396_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: MHS1: A4940T
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
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: RYR1: A4940T
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



Structure of the rabbit ryanodine receptor RyR1 at near-atomic resolution.

Nature
Yan, Zhen Z; Bai, Xiaochen X; Yan, Chuangye C; Wu, Jianping J; Li, Zhangqiang Z; Xie, Tian T; Peng, Wei W; Yin, Changcheng C; Li, Xueming X; Scheres, Sjors H W SHW; Shi, Yigong Y; Yan, Nieng N
Publication Date: 2015-01-01

Variant appearance in text: MHS1: A4940T
PubMed Link: 25517095
Variant Present in the following documents:
  • NIHMS61019-supplement-Supplementary_Table_1.pdf
View BVdb publication page



Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.

Anesthesia And Analgesia
Brandom, Barbara W BW; Bina, Saiid S; Wong, Cynthia A CA; Wallace, Tarina T; Visoiu, Mihaela M; Isackson, Paul J PJ; Vladutiu, Georgirene D GD; Sambuughin, Nyamkhishig N; Muldoon, Sheila M SM
Publication Date: 2013-05

Variant appearance in text: RYR1: Ala4940Thr
PubMed Link: 23558838
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel excitation-contraction uncoupled RYR1 mutations in patients with central core disease.

Neuromuscular Disorders : Nmd
Kraeva, Natalia N; Zvaritch, Elena E; Rossi, Ann E AE; Goonasekera, Sanjeewa A SA; Zaid, Hilal H; Frodis, Wanda W; Kraev, Alexander A; Dirksen, Robert T RT; Maclennan, David H DH; Riazi, Sheila S
Publication Date: 2013-02

Variant appearance in text: RYR1: 14818G>A
PubMed Link: 23183335
Variant Present in the following documents:
  • Main text
View BVdb publication page