MYH7 c.2342T>C ;(p.L781P)

Variant ID: 14-23894572-A-G

NM_000257.2(MYH7):c.2342T>C;(p.L781P)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Cryo-EM structure of the folded-back state of human β-cardiac myosin.

Biorxiv : The Preprint Server For Biology
Grinzato, Alessandro A; Auguin, Daniel D; Kikuti, Carlos C; Nandwani, Neha N; Moussaoui, Dihia D; Pathak, Divya D; Kandiah, Eaazhisai E; Ruppel, Kathleen M KM; Spudich, James A JA; Houdusse, Anne A; Robert-Paganin, Julien J
Publication Date: 2023-04-18

Variant appearance in text: MYH7: L781P
PubMed Link: 37131793
Variant Present in the following documents:
  • Main text
  • nihpp-2023.04.15.536999v1.pdf
View BVdb publication page



Hypertrophic cardiomyopathy: Mutations to mechanisms to therapies.

Frontiers In Physiology
Kawana, Masataka M; Spudich, James A JA; Ruppel, Kathleen M KM
Publication Date: 2022

Variant appearance in text: MYH7: L781P
PubMed Link: 36225299
Variant Present in the following documents:
  • Main text
  • fphys-13-975076.pdf
View BVdb publication page



Hypertrophic cardiomyopathy mutations in the pliant and light chain-binding regions of the lever arm of human β-cardiac myosin have divergent effects on myosin function.

Elife
Morck, Makenna M MM; Bhowmik, Debanjan D; Pathak, Divya D; Dawood, Aminah A; Spudich, James J; Ruppel, Kathleen M KM
Publication Date: 2022-06-29

Variant appearance in text: MYH7: L781P
PubMed Link: 35767336
Variant Present in the following documents:
  • Main text
  • elife-76805.pdf
View BVdb publication page



Critical Evaluation of Current Hypotheses for the Pathogenesis of Hypertrophic Cardiomyopathy.

International Journal Of Molecular Sciences
Ušaj, Marko M; Moretto, Luisa L; Månsson, Alf A
Publication Date: 2022-02-16

Variant appearance in text: MYH7: L781P
PubMed Link: 35216312
Variant Present in the following documents:
  • Main text
  • ijms-23-02195.pdf
View BVdb publication page



Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes.

Elife
Alamo, Lorenzo L; Ware, James S JS; Pinto, Antonio A; Gillilan, Richard E RE; Seidman, Jonathan G JG; Seidman, Christine E CE; Padrón, Raúl R
Publication Date: 2017-06-13

Variant appearance in text: MYH7: L781P
PubMed Link: 28606303
Variant Present in the following documents:
  • Main text
  • elife-24634.pdf
View BVdb publication page