|
rs104894503
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
The flexibility of two tropomyosin mutants, D175N and E180G, that cause hypertrophic cardiomyopathy.
|
22789852 |
2012 |
|
rs104894503
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The TPM1-D175N and MYBPC3-Q1061X mutations account for a substantial part of all HCM cases in the Finnish population, indicating that routine genetic screening of these mutations is warranted in Finnish patients with HCM.
|
22462493 |
2013 |
|
rs104894503
|
|
|
0.800 |
GeneticVariation |
BEFREE |
To understand how the HCM-causing Asp175Asn and Glu180Gly mutations in α-tropomyosin affect on actin-myosin interaction during the ATPase cycle, we labeled the SH1 helix of myosin subfragment-1 and the actin subdomain-1 with the fluorescent probe N-iodoacetyl-N'-(5-sulfo-1-naphtylo)ethylenediamine.
|
22155441 |
2012 |
|
rs104894503
|
|
|
0.800 |
GeneticVariation |
BEFREE |
To understand the molecular mechanism by which the hypertrophic cardiomyopathy-causing Asp175Asn and Glu180Gly mutations in α-tropomyosin alter contractile regulation, we labeled recombinant wild type and mutant α-tropomyosins with 5-iodoacetamide-fluorescein and incorporated them into the ghost muscle fibers.
|
21376702 |
2011 |
|
rs104894503
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Twenty-four patients with a single HCM-causing mutation D175N in the α-tropomyosin gene and 17 control subjects.
|
22447464 |
2012 |
|
rs104894503
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Two founder mutations in the alpha-tropomyosin and the cardiac myosin-binding protein C genes are common causes of hypertrophic cardiomyopathy in the Finnish population.
|
22462493 |
2013 |
|
rs104894503
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Two missense mutations in exon 2 (Ala63Val and Lys70Thr) and one missense mutation in exon 5 (Asp175Asn) were found in three unrelated HCM kindreds.
|
8774330 |
1996 |
|
rs104894503
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Using adenovirus, we expressed HCM-causing variants of human troponin-T, troponin-I, and α-tropomyosin (R92Q, R145G, and D175N, respectively) in isolated guinea pig left ventricular cardiomyocytes.
|
29760186 |
2018 |
|
rs104894503
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We studied 140 carriers (G+) of the TPM1-Asp175Asn or MYBPC3-Gln1061X pathogenic variants for HCM: The G+/LVH+ group (n = 98) consisted of mutation carriers with LVH and the G+/LVH- group (n = 42) without LVH.
|
30497761 |
2019 |