|
rs104894368
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
E22K mutation of RLC that causes familial hypertrophic cardiomyopathy in heterozygous mouse myocardium: effect on cross-bridge kinetics.
|
16751284 |
2006 |
|
rs104894368
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
The E22K mutation of myosin RLC that causes familial hypertrophic cardiomyopathy increases calcium sensitivity of force and ATPase in transgenic mice.
|
16076902 |
2005 |
|
rs104894368
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Mechanical defects of muscle fibers with myosin light chain mutants that cause cardiomyopathy.
|
12668451 |
2003 |
|
rs104894368
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy.
|
12404107 |
2002 |
|
rs104894368
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Familial hypertrophic cardiomyopathy mutations in the regulatory light chains of myosin affect their structure, Ca2+ binding, and phosphorylation.
|
11102452 |
2001 |
|
rs104894368
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
In vivo analysis of an essential myosin light chain mutation linked to familial hypertrophic cardiomyopathy.
|
10948063 |
2000 |
|
rs104894368
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Structural and functional responses of mammalian thick filaments to alterations in myosin regulatory light chains.
|
9724616 |
1998 |
|
rs104894368
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle.
|
8673105 |
1996 |
|
rs104894368
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
|
rs199474814
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Regulatory light chain mutants linked to heart disease modify the cardiac myosin lever arm.
|
23343568 |
2013 |
|
rs199474814
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.
|
18533079 |
2008 |
|
rs397516398
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs397516399
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs397516407
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs397516408
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs587782965
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs727503296
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs35049558
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Phosphomimetic-mediated in vitro rescue of hypertrophic cardiomyopathy linked to R58Q mutation in myosin regulatory light chain.
|
30430732 |
2019 |
|
rs35049558
|
|
|
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 |
|
rs35049558
|
|
|
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 |
|
rs35049558
|
|
|
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 |