RYR1 c.463C>A ;(p.Q155K)

Variant ID: 19-38934827-C-A

NM_000540.2(RYR1):c.463C>A;(p.Q155K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Defective ryanodine receptor N-terminus inter-subunit interaction is a common mechanism in neuromuscular and cardiac disorders.

Frontiers In Physiology
Zhang, Yadan Y; Rabesahala de Meritens, Camille C; Beckmann, Astrid A; Lai, F Anthony FA; Zissimopoulos, Spyros S
Publication Date: 2022

Variant appearance in text: RYR1: Q155K
PubMed Link: 36311249
Variant Present in the following documents:
  • Main text
  • fphys-13-1032132.pdf
View BVdb publication page



Insights into channel modulation mechanism of RYR1 mutants using Ca2+ imaging and molecular dynamics.

The Journal Of General Physiology
Yamazawa, Toshiko T; Ogawa, Haruo H; Murayama, Takashi T; Yamaguchi, Maki M; Oyamada, Hideto H; Suzuki, Junji J; Kurebayashi, Nagomi N; Kanemaru, Kazunori K; Oguchi, Katsuji K; Sakurai, Takashi T; Iino, Masamitsu M
Publication Date: 2020-01-06

Variant appearance in text: RYR1: Q155K
PubMed Link: 31841587
Variant Present in the following documents:
  • Main text
  • JGP_201812235.pdf
View BVdb publication page