RYR1 c.12406C>A ;(p.R4136S)

Variant ID: 19-39051876-C-A

NM_000540.2(RYR1):c.12406C>A;(p.R4136S)

This variant was identified in 4 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: Arg4136Ser
PubMed Link: 34535181
Variant Present in the following documents:
  • Main text
  • 40478_2021_Article_1254.pdf
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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: R4136S
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
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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: R4136S
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: R4136S
PubMed Link: 25517095
Variant Present in the following documents:
  • NIHMS61019-supplement-Supplementary_Table_1.pdf
View BVdb publication page