RYR1 c.12700G>C ;(p.V4234L)

Variant ID: 19-39055674-G-C

NM_000540.2(RYR1):c.12700G>C;(p.V4234L)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course.

Acta Neuropathologica Communications
Biancalana, Valérie V; Rendu, John J; Chaussenot, Annabelle A; Mecili, Helen H; Bieth, Eric E; Fradin, Mélanie M; Mercier, Sandra S; Michaud, Maud M; Nougues, Marie-Christine MC; Pasquier, Laurent L; Sacconi, Sabrina S; Romero, Norma B NB; Marcorelles, Pascale P; Authier, François Jérôme FJ; Gelot Bernabe, Antoinette A; Uro-Coste, Emmanuelle E; Cances, Claude C; Isidor, Bertrand B; Magot, Armelle A; Minot-Myhie, Marie-Christine MC; Péréon, Yann Y; Perrier-Boeswillwald, Julie J; Bretaudeau, Gilles G; Dondaine, Nicolas N; Bouzenard, Alison A; Pizzimenti, Mégane M; Eymard, Bruno B; Ferreiro, Ana A; Laporte, Jocelyn J; Fauré, Julien J; Böhm, Johann J
Publication Date: 2021-09-17

Variant appearance in text: RYR1: Val4234Leu
PubMed Link: 34535181
Variant Present in the following documents:
  • Main text
  • 40478_2021_Article_1254.pdf
View BVdb publication page



Permeabilised skeletal muscle reveals mitochondrial deficiency in malignant hyperthermia-susceptible individuals.

British Journal Of Anaesthesia
Chang, Leon L; Daly, Catherine C; Miller, Dorota M DM; Allen, Paul D PD; Boyle, John P JP; Hopkins, Philip M PM; Shaw, Marie-Anne MA
Publication Date: 2019-05

Variant appearance in text: RYR1: 12700G>C; rs193922852
PubMed Link: 30916033
Variant Present in the following documents:
  • Main text
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: V4234L
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: V4234L
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
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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: V4234L
PubMed Link: 25517095
Variant Present in the following documents:
  • NIHMS61019-supplement-Supplementary_Table_1.pdf
View BVdb publication page



Evaluation of suspected malignant hyperthermia events during anesthesia.

Bmc Anesthesiology
Schuster, Frank F; Johannsen, Stephan S; Schneiderbanger, Daniel D; Roewer, Norbert N
Publication Date: 2013-09-23

Variant appearance in text: MHS: Val4234Leu
PubMed Link: 24053352
Variant Present in the following documents:
  • Main text
  • 1471-2253-13-24.pdf
View BVdb publication page



Exome sequencing reveals novel rare variants in the ryanodine receptor and calcium channel genes in malignant hyperthermia families.

Anesthesiology
Kim, Jerry H JH; Jarvik, Gail P GP; Browning, Brian L BL; Rajagopalan, Ramakrishnan R; Gordon, Adam S AS; Rieder, Mark J MJ; Robertson, Peggy D PD; Nickerson, Deborah A DA; Fisher, Nickla A NA; Hopkins, Philip M PM
Publication Date: 2013-11

Variant appearance in text: RYR1: Val4234Leu
PubMed Link: 24013571
Variant Present in the following documents:
  • Main text
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: MHS: V4234L
PubMed Link: 23919265
Variant Present in the following documents:
  • 1750-1172-8-117-S1.xlsx, sheet 1
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: MHS: V4234L
PubMed Link: 19513315
Variant Present in the following documents:
  • Main text
  • jcn-4-123.pdf
View BVdb publication page