RYR1 c.11905C>A ;(p.Q3969K)

Variant ID: 19-39034298-C-A

NM_000540.2(RYR1):c.11905C>A;(p.Q3969K)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: Q3969K
PubMed Link: 35980353
Variant Present in the following documents:
  • Main text
  • JGP_202213115.pdf
View BVdb publication page



RyR1-related myopathy mutations in ATP and calcium binding sites impair channel regulation.

Acta Neuropathologica Communications
Yuan, Qi Q; Dridi, Haikel H; Clarke, Oliver B OB; Reiken, Steven S; Melville, Zephan Z; Wronska, Anetta A; Kushnir, Alexander A; Zalk, Ran R; Sittenfeld, Leah L; Marks, Andrew R AR
Publication Date: 2021-11-22

Variant appearance in text: RYR1: Q3969K
PubMed Link: 34809703
Variant Present in the following documents:
  • Main text
  • 40478_2021_Article_1287.pdf
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: RYR1: Q3969K
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
View BVdb publication page