RYR1 c.14681C>A ;(p.A4894D)

Variant ID: 19-39075617-C-A

NM_000540.2(RYR1):c.14681C>A;(p.A4894D)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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: 14681C>A; Ala4894Asp
PubMed Link: 33646171
Variant Present in the following documents:
  • Main text
  • jnd-8-jnd200549.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: 14681C>A; Ala4894Asp
PubMed Link: 32236737
Variant Present in the following documents:
  • Main text
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: Ala4894Asp
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



Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings.

Frontiers In Neurology
Todd, Joshua J JJ; Razaqyar, Muslima S MS; Witherspoon, Jessica W JW; Lawal, Tokunbor A TA; Mankodi, Ami A; Chrismer, Irene C IC; Allen, Carolyn C; Meyer, Mary D MD; Kuo, Anna A; Shelton, Monique S MS; Amburgey, Kim K; Niyazov, Dmitriy D; Fequiere, Pierre P; Bönnemann, Carsten G CG; Dowling, James J JJ; Meilleur, Katherine G KG
Publication Date: 2018

Variant appearance in text: RYR1: Ala4894Asp
PubMed Link: 29556213
Variant Present in the following documents:
  • Main text
  • fneur-09-00118.pdf
View BVdb publication page