RYR1 c.7304G>A ;(p.R2435H)

Variant ID: 19-38990637-G-A

NM_000540.2(RYR1):c.7304G>A;(p.R2435H)

This variant was identified in 26 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: 7304G>A; Arg2435His
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
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: RYR1: Arg2435His
PubMed Link: 36292611
Variant Present in the following documents:
  • genes-13-01726.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: 7304G>A; Arg2435His
PubMed Link: 35428369
Variant Present in the following documents:
  • Main text
  • 40478_2022_Article_1357.pdf
View BVdb publication page



Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.

Npj Genomic Medicine
Lanillos, Javier J; Carcajona, Marta M; Maietta, Paolo P; Alvarez, Sara S; Rodriguez-Antona, Cristina C
Publication Date: 2022-02-18

Variant appearance in text: RYR1: 7304G>A; R2435H
PubMed Link: 35181665
Variant Present in the following documents:
  • 41525_2022_283_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Polygenic Panels Predicting the Susceptibility of Multiple Upper Aerodigestive Tract Cancer in Oral Cancer Patients.

Journal Of Personalized Medicine
Chien, Huei-Tzu HT; Yeh, Chi-Chin CC; Young, Chi-Kuang CK; Chen, Tzu-Ping TP; Liao, Chun-Ta CT; Wang, Hung-Ming HM; Cho, Kai-Lun KL; Huang, Shiang-Fu SF
Publication Date: 2021-05-18

Variant appearance in text: rs28933396
PubMed Link: 34070222
Variant Present in the following documents:
  • Main text
View BVdb publication page



Implementing Pharmacogenomics Testing: Single Center Experience at Arkansas Children's Hospital.

Journal Of Personalized Medicine
Gill, Pritmohinder S PS; Yu, Feliciano B FB; Porter-Gill, Patricia A PA; Boyanton, Bobby L BL; Allen, Judy C JC; Farrar, Jason E JE; Veerapandiyan, Aravindhan A; Prodhan, Parthak P; Bielamowicz, Kevin J KJ; Sellars, Elizabeth E; Burrow, Andrew A; Kennedy, Joshua L JL; Clothier, Jeffery L JL; Becton, David L DL; Rule, Don D; Schaefer, G Bradley GB
Publication Date: 2021-05-11

Variant appearance in text: rs28933396
PubMed Link: 34064668
Variant Present in the following documents:
  • Main text
  • jpm-11-00394.pdf
View BVdb publication page



Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.

Plos Genetics
Yu, Mullin Ho Chung MHC; Chan, Marcus Chun Yin MCY; Chung, Claudia Ching Yan CCY; Li, Andrew Wang Tat AWT; Yip, Chara Yin Wa CYW; Mak, Christopher Chun Yu CCY; Chau, Jeffrey Fong Ting JFT; Lee, Mianne M; Fung, Jasmine Lee Fong JLF; Tsang, Mandy Ho Yin MHY; Chan, Joshua Chun Ki JCK; Wong, Wilfred Hing Sang WHS; Yang, Jing J; Chui, William Chun Ming WCM; Chung, Patrick Ho Yu PHY; Yang, Wanling W; Lee, So Lun SL; Chan, Godfrey Chi Fung GCF; Tam, Paul Kwong Hang PKH; Lau, Yu Lung YL; Tang, Clara Sze Man CSM; Yeung, Kit San KS; Chung, Brian Hon Yin BHY
Publication Date: 2021-02

Variant appearance in text: RYR1: 7304G>A; rs28933396
PubMed Link: 33600428
Variant Present in the following documents:
  • pgen.1009323.s003.xlsx, sheet 1
View BVdb publication page



Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990-2019.

Orphanet Journal Of Rare Diseases
Lawal, Tokunbor A TA; Wires, Emily S ES; Terry, Nancy L NL; Dowling, James J JJ; Todd, Joshua J JJ
Publication Date: 2020-05-07

Variant appearance in text: RYR1: R2435H
PubMed Link: 32381029
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: Arg2435His
PubMed Link: 31559918
Variant Present in the following documents:
  • Main text
View BVdb publication page



The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations.

Journal Of Neurology
Knuiman, G J GJ; Küsters, B B; Eshuis, L L; Snoeck, M M; Lammens, M M; Heytens, L L; De Ridder, W W; Baets, J J; Scalco, R S RS; Quinlivan, R R; Holton, J J; Bodi, I I; Wraige, E E; Radunovic, A A; von Landenberg, C C; Reimann, J J; Kamsteeg, E-J EJ; Sewry, C C; Jungbluth, H H; Voermans, N C NC
Publication Date: 2019-04

Variant appearance in text: RYR1: 7304G>A
PubMed Link: 30788618
Variant Present in the following documents:
  • Main text
  • 415_2019_Article_9209.pdf
View BVdb publication page



'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.

Acta Neuropathologica Communications
Garibaldi, Matteo M; Rendu, John J; Brocard, Julie J; Lacene, Emmanuelle E; Fauré, Julien J; Brochier, Guy G; Beuvin, Maud M; Labasse, Clemence C; Madelaine, Angeline A; Malfatti, Edoardo E; Bevilacqua, Jorge Alfredo JA; Lubieniecki, Fabiana F; Monges, Soledad S; Taratuto, Ana Lia AL; Laporte, Jocelyn J; Marty, Isabelle I; Antonini, Giovanni G; Romero, Norma Beatriz NB
Publication Date: 2019-01-05

Variant appearance in text: rs28933396
PubMed Link: 30611313
Variant Present in the following documents:
  • 40478_2018_655_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the Use of Potent Volatile Anesthetic Agents and Succinylcholine in the Context of RYR1 or CACNA1S Genotypes.

Clinical Pharmacology And Therapeutics
Gonsalves, Stephen G SG; Dirksen, Robert T RT; Sangkuhl, Katrin K; Pulk, Rebecca R; Alvarellos, Maria M; Vo, Teresa T; Hikino, Keiko K; Roden, Dan D; Klein, Teri E TE; Poler, S Mark SM; Patel, Sephalie S; Caudle, Kelly E KE; Gordon, Ronald R; Brandom, Barbara B; Biesecker, Leslie G LG
Publication Date: 2019-06

Variant appearance in text: RYR1: Arg2435His
PubMed Link: 30499100
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic epidemiology of malignant hyperthermia in the UK.

British Journal Of Anaesthesia
Miller, D M DM; Daly, C C; Aboelsaod, E M EM; Gardner, L L; Hobson, S J SJ; Riasat, K K; Shepherd, S S; Robinson, R L RL; Bilmen, J G JG; Gupta, P K PK; Shaw, M-A MA; Hopkins, P M PM
Publication Date: 2018-10

Variant appearance in text: RYR1: 7304G>A; Arg2435His
PubMed Link: 30236257
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical and Pathologic Findings of Korean Patients with RYR1-Related Congenital Myopathy.

Journal Of Clinical Neurology (Seoul, Korea)
Jeong, Ha Neul HN; Park, Hyung Jun HJ; Lee, Jung Hwan JH; Shin, Ha Young HY; Kim, Se Hoon SH; Kim, Seung Min SM; Choi, Young Chul YC
Publication Date: 2018-01

Variant appearance in text: RYR1: 7304G>A
PubMed Link: 29629541
Variant Present in the following documents:
  • jcn-14-58.pdf
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: R2435H; rs28933396
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



PharmGKB summary: succinylcholine pathway, pharmacokinetics/pharmacodynamics.

Pharmacogenetics And Genomics
Alvarellos, Maria L ML; McDonagh, Ellen M EM; Patel, Sephalie S; McLeod, Howard L HL; Altman, Russ B RB; Klein, Teri E TE
Publication Date: 2015-12

Variant appearance in text: MHS: 7304G>A; rs28933396
PubMed Link: 26398623
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: RYR1: R2435H
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: R2435H
PubMed Link: 25517095
Variant Present in the following documents:
  • NIHMS61019-supplement-Supplementary_Table_1.pdf
View BVdb publication page



Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.

Journal Of Medical Genetics
Walsh, Roddy R; Peters, Nicholas S NS; Cook, Stuart A SA; Ware, James S JS
Publication Date: 2014-01

Variant appearance in text: RYR1: R2435H
PubMed Link: 24136861
Variant Present in the following documents:
  • jmedgenet-2013-101917-s1.pdf
View BVdb publication page



Genotype-phenotype correlations in recessive RYR1-related myopathies.

Orphanet Journal Of Rare Diseases
Amburgey, Kimberly K; Bailey, Angela A; Hwang, Jean H JH; Tarnopolsky, Mark A MA; Bonnemann, Carsten G CG; Medne, Livija L; Mathews, Katherine D KD; Collins, James J; Daube, Jasper R JR; Wellman, Gregory P GP; Callaghan, Brian B; Clarke, Nigel F NF; Dowling, James J JJ
Publication Date: 2013-08-06

Variant appearance in text: RYR1: R2435H
PubMed Link: 23919265
Variant Present in the following documents:
  • 1750-1172-8-117-S1.xlsx, sheet 1
  • 1750-1172-8-117-S1.xlsx, sheet 2
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: 7304G>A
PubMed Link: 23183335
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic risk for malignant hyperthermia in non-anesthesia-induced myopathies.

Molecular Genetics And Metabolism
Vladutiu, Georgirene D GD; Isackson, Paul J PJ; Kaufman, Kenneth K; Harley, John B JB; Cobb, Beth B; Christopher-Stine, Lisa L; Wortmann, Robert L RL
Publication Date: 2011

Variant appearance in text: RYR1: R2435H
PubMed Link: 21795085
Variant Present in the following documents:
  • Main text
View BVdb publication page



A double mutation of the ryanodine receptor type 1 gene in a malignant hyperthermia family with multiminicore myopathy.

Journal Of Clinical Neurology (Seoul, Korea)
Jeong, Seul-Ki SK; Kim, Dong-Chan DC; Cho, Yong-Gon YG; Sunwoo, Il-Nam IN; Kim, Dal-Sik DS
Publication Date: 2008-09

Variant appearance in text: RYR1: 7304G>A
PubMed Link: 19513315
Variant Present in the following documents:
  • Main text
  • jcn-4-123.pdf
View BVdb publication page



A recessive ryanodine receptor 1 mutation in a CCD patient increases channel activity.

Cell Calcium
Ghassemi, Farshid F; Vukcevic, Mirko M; Xu, Le L; Zhou, Haiyan H; Meissner, Gerhard G; Muntoni, Francesco F; Jungbluth, Heinz H; Zorzato, Francesco F; Treves, Susan S
Publication Date: 2009-02

Variant appearance in text: RYR1: Arg2435His
PubMed Link: 19027160
Variant Present in the following documents:
  • Main text
View BVdb publication page



Distinct effects on Ca2+ handling caused by malignant hyperthermia and central core disease mutations in RyR1.

Biophysical Journal
Dirksen, Robert T RT; Avila, Guillermo G
Publication Date: 2004-11

Variant appearance in text: MHS: R2435H
PubMed Link: 15347586
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional effects of central core disease mutations in the cytoplasmic region of the skeletal muscle ryanodine receptor.

The Journal Of General Physiology
Avila, G G; Dirksen, R T RT
Publication Date: 2001-09

Variant appearance in text: RYR1: R2435H
PubMed Link: 11524458
Variant Present in the following documents:
  • 8443.pdf
View BVdb publication page