MYL2 c.58A>T ;(p.M20L)

Variant ID: 12-111356943-T-A

NM_000432.3(MYL2):c.58A>T;(p.M20L)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Insights into myosin regulatory and essential light chains: a focus on their roles in cardiac and skeletal muscle function, development and disease.

Journal Of Muscle Research And Cell Motility
Sitbon, Yoel H YH; Yadav, Sunil S; Kazmierczak, Katarzyna K; Szczesna-Cordary, Danuta D
Publication Date: 2020-12

Variant appearance in text: MYL2: M20L
PubMed Link: 31131433
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pseudophosphorylation of cardiac myosin regulatory light chain: a promising new tool for treatment of cardiomyopathy.

Biophysical Reviews
Yadav, Sunil S; Szczesna-Cordary, Danuta D
Publication Date: 2017-02

Variant appearance in text: MYL2: M20L
PubMed Link: 28510043
Variant Present in the following documents:
  • Main text
View BVdb publication page



Regulatory light chain mutants linked to heart disease modify the cardiac myosin lever arm.

Biochemistry
Burghardt, Thomas P TP; Sikkink, Laura A LA
Publication Date: 2013-02-19

Variant appearance in text: MYL2: M20L
PubMed Link: 23343568
Variant Present in the following documents:
  • Main text
View BVdb publication page