MYL2 c.310A>G ;(p.K104E)

Variant ID: 12-111351093-T-C

NM_000432.3(MYL2):c.310A>G;(p.K104E)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Dilated cardiomyopathy mutation E525K in human beta-cardiac myosin stabilizes the interacting-heads motif and super-relaxed state of myosin.

Elife
Rasicci, David V DV; Tiwari, Prince P; Bodt, Skylar M L SML; Desetty, Rohini R; Sadler, Fredrik R FR; Sivaramakrishnan, Sivaraj S; Craig, Roger R; Yengo, Christopher M CM
Publication Date: 2022-11-24

Variant appearance in text: MYL2: K104E
PubMed Link: 36422472
Variant Present in the following documents:
  • elife-77415.pdf
View BVdb publication page



Cardiac myosin contraction and mechanotransduction in health and disease.

The Journal Of Biological Chemistry
Barrick, Samantha K SK; Greenberg, Michael J MJ
Publication Date: 2021-11

Variant appearance in text: MYL2: K104E
PubMed Link: 34634306
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Impact of regulatory light chain mutation K104E on the ATPase and motor properties of cardiac myosin.

The Journal Of General Physiology
Rasicci, David V DV; Kirkland, Orville O; Moonschi, Faruk H FH; Wood, Neil B NB; Szczesna-Cordary, Danuta D; Previs, Michael J MJ; Wenk, Jonathan F JF; Campbell, Kenneth S KS; Yengo, Christopher M CM
Publication Date: 2021-07-05

Variant appearance in text: MYL2: K104E
PubMed Link: 33891674
Variant Present in the following documents:
  • Main text
View BVdb publication page



Proteomics study on the effect of silybin on cardiomyopathy in obese mice.

Scientific Reports
Wang, Fei F; Li, Zelin Z; Song, Tiantian T; Jia, Yujiao Y; Qi, Licui L; Ren, Luping L; Chen, Shuchun S
Publication Date: 2021-03-30

Variant appearance in text: MYL2: Lys104Glu
PubMed Link: 33785854
Variant Present in the following documents:
  • 41598_2021_Article_86717.pdf
View BVdb publication page



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: K104E
PubMed Link: 31131433
Variant Present in the following documents:
  • Main text
View BVdb publication page



No Difference in Myosin Kinetics and Spatial Distribution of the Lever Arm in the Left and Right Ventricles of Human Hearts.

Frontiers In Physiology
Duggal, Divya D; Requena, S S; Nagwekar, Janhavi J; Raut, Sangram S; Rich, Ryan R; Das, Hriday H; Patel, Vipul V; Gryczynski, Ignacy I; Fudala, Rafal R; Gryczynski, Zygmunt Z; Blair, Cheavar C; Campbell, Kenneth S KS; Borejdo, Julian J
Publication Date: 2017

Variant appearance in text: MYL2: K104E
PubMed Link: 29081749
Variant Present in the following documents:
  • fphys-08-00732.pdf
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: K104E
PubMed Link: 28510043
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gene expression patterns in transgenic mouse models of hypertrophic cardiomyopathy caused by mutations in myosin regulatory light chain.

Archives Of Biochemistry And Biophysics
Huang, Wenrui W; Kazmierczak, Katarzyna K; Zhou, Zhiqun Z; Aguiar-Pulido, Vanessa V; Narasimhan, Giri G; Szczesna-Cordary, Danuta D
Publication Date: 2016-07-01

Variant appearance in text: MYL2: K104E
PubMed Link: 26906074
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functions of myosin light chain-2 (MYL2) in cardiac muscle and disease.

Gene
Sheikh, Farah F; Lyon, Robert C RC; Chen, Ju J
Publication Date: 2015-09-10

Variant appearance in text: MYL2: K104E
PubMed Link: 26074085
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hypertrophic cardiomyopathy associated Lys104Glu mutation in the myosin regulatory light chain causes diastolic disturbance in mice.

Journal Of Molecular And Cellular Cardiology
Huang, Wenrui W; Liang, Jingsheng J; Kazmierczak, Katarzyna K; Muthu, Priya P; Duggal, Divya D; Farman, Gerrie P GP; Sorensen, Lars L; Pozios, Iraklis I; Abraham, Theodore P TP; Moore, Jeffrey R JR; Borejdo, Julian J; Szczesna-Cordary, Danuta D
Publication Date: 2014-09

Variant appearance in text: MYL2: Lys104Glu
PubMed Link: 24992035
Variant Present in the following documents:
  • Main text
View BVdb publication page