Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs35049558
rs35049558
MYL2
0.040 GeneticVariation BEFREE Phosphomimetic-mediated in vitro rescue of hypertrophic cardiomyopathy linked to R58Q mutation in myosin regulatory light chain. 30430732

2019
dbSNP: rs35049558
rs35049558
MYL2
0.040 GeneticVariation BEFREE Therefore, we confirmed that R58Q could be passed from generation to generation along with HCM symptoms and that it was indeed a deleterious mutation for HCM. 31104103

2019
dbSNP: rs35049558
rs35049558
MYL2
0.040 GeneticVariation BEFREE Overall, the MYL2-R58Q iPSC-CMs recapitulated the HCM phenotype by exhibiting hypertrophy, myofibrillar disarray, increased irregular beating, decreased [Ca<sup>2+</sup>]<sub>i</sub> transients, and unexpectedly a nearly 50% reduction in LTCC peak current. 30796699

2019
dbSNP: rs35049558
rs35049558
MYL2
0.040 GeneticVariation BEFREE In summary, even though R58Q expression was restricted to the heart of mice, functional similarities were clearly observed between the hearts and slow-twitch skeletal muscle, suggesting that MYL2 mutated models of hypertrophic cardiomyopathy may be useful research tools to study the molecular, structural, and energetic mechanisms of cardioskeletal myopathy associated with myosin RLC.-Kazmierczak, K., Liang, J., Yuan, C.-C., Yadav, S., Sitbon, Y. H., Walz, K., Ma, W., Irving, T. C., Cheah, J. X., Gomes, A. V., Szczesna-Cordary, D. Slow-twitch skeletal muscle defects accompany cardiac dysfunction in transgenic mice with a mutation in the myosin regulatory light chain. 30365366

2019