Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894503
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

dbSNP: rs104894503
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

dbSNP: rs104894503
rs104894503
0.800 GeneticVariation BEFREE In the nationwide FinHCM Study including 306 Finnish patients with hypertrophic cardiomyopathy (HCM), we have previously identified two founder mutations in the alpha-tropomyosin (TPM1-D175N) and myosin-binding protein C (MYBPC3-Q1061X) genes, accounting for 18% of all cases.Objective. 24888384

2014

dbSNP: rs104894503
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

dbSNP: rs104894503
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

dbSNP: rs104894503
rs104894503
A 0.800 CausalMutation CLINVAR Long-range effects of familial hypertrophic cardiomyopathy mutations E180G and D175N on the properties of tropomyosin. 22794249

2012

dbSNP: rs104894503
rs104894503
A 0.800 CausalMutation CLINVAR The flexibility of two tropomyosin mutants, D175N and E180G, that cause hypertrophic cardiomyopathy. 22789852

2012

dbSNP: rs104894503
rs104894503
A 0.800 CausalMutation CLINVAR The effect of the Asp175Asn and Glu180Gly TPM1 mutations on actin-myosin interaction during the ATPase cycle. 22155441

2012

dbSNP: rs104894503
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

dbSNP: rs104894503
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

dbSNP: rs104894503
rs104894503
A 0.800 CausalMutation CLINVAR Several cardiomyopathy causing mutations on tropomyosin either destabilize the active state of actomyosin or alter the binding properties of tropomyosin. 21295541

2011

dbSNP: rs104894503
rs104894503
A 0.800 CausalMutation CLINVAR Hypertrophic cardiomyopathy-causing Asp175asn and Glu180gly Tpm1 mutations shift tropomyosin strands further towards the open position during the ATPase cycle. 21376702

2011

dbSNP: rs104894503
rs104894503
A 0.800 CausalMutation CLINVAR Enhanced active cross-bridges during diastole: molecular pathogenesis of tropomyosin's HCM mutations. 21320446

2011

dbSNP: rs104894503
rs104894503
A 0.800 CausalMutation CLINVAR Facilitated cross-bridge interactions with thin filaments by familial hypertrophic cardiomyopathy mutations in α-tropomyosin. 22187526

2011

dbSNP: rs104894503
rs104894503
0.800 GeneticVariation BEFREE 95 unselected subjects with mild-to-moderate hypertension, 24 patients with HCM attributable to the D175N mutation of the α-tropomyosin gene and 17 control subjects were studied by cine CMRI. 21274714

2011

dbSNP: rs104894503
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

dbSNP: rs104894503
rs104894503
0.800 GeneticVariation BEFREE In conclusion, in patients with nonobstructive HC attributable to an Asp175Asn mutation in the alpha-tropomyosin gene, elevated NT-pro-BNP levels are associated with incipient LV remodeling, suggesting that NT-pro-BNP could be used to diagnose insidious unfavorable LV remodeling in HC. 18394456

2008

dbSNP: rs104894503
rs104894503
0.800 GeneticVariation BEFREE In HCM attributable to the Asp175Asn mutation in the alpha-tropomyosin gene, myocardial oxidative metabolism and FFA metabolism are increased and inversely related to LV hypertrophy at both the whole heart and regional level. 17556170

2007

dbSNP: rs104894503
rs104894503
A 0.800 CausalMutation CLINVAR Diastolic dysfunction without left ventricular hypertrophy is an early finding in children with hypertrophic cardiomyopathy-causing mutations in the beta-myosin heavy chain, alpha-tropomyosin, and myosin-binding protein C genes. 16504640

2006

dbSNP: rs104894503
rs104894503
A 0.800 CausalMutation CLINVAR Cine MR imaging of myocardial contractile impairment in patients with hypertrophic cardiomyopathy attributable to Asp175Asn mutation in the alpha-tropomyosin gene. 16014439

2005

dbSNP: rs104894503
rs104894503
0.800 GeneticVariation BEFREE The extent of myocardial contractile impairment is strongly and independently related to LV mass and maximal wall thickness in patients with HCM attributable to the Asp175Asn mutation in TPM1. 16014439

2005

dbSNP: rs104894503
rs104894503
A 0.800 CausalMutation CLINVAR Inducibility of life-threatening ventricular arrhythmias is related to maximum left ventricular thickness and clinical markers of sudden cardiac death in patients with hypertrophic cardiomyopathy attributable to the Asp175Asn mutation in the alpha-tropomyosin gene. 14734051

2004

dbSNP: rs104894503
rs104894503
0.800 GeneticVariation BEFREE In conclusion, in HCM attributable to the Asp175Asn mutation in the alpha-tropomyosin gene, life-threatening arrhythmias were induced in one third of the patients. 14734051

2004

dbSNP: rs104894503
rs104894503
0.800 GeneticVariation BEFREE Rest-stress first-pass MR imaging with gadopentetate dimeglumine was performed in 17 patients with HCM and the Asp175Asn substitution in the alpha-tropomyosin gene and in five control subjects. 12511681

2003

dbSNP: rs104894503
rs104894503
A 0.800 CausalMutation CLINVAR Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophic cardiomyopathy (HCM) as "benign defects," associated with near-normal survival: N232S, G256E, F513C, V606M, R719Q, and L908V of beta-myosin heavy chain (MYH7); S179F of troponin T (TNNT2); and D175N of alpha-tropomyosin (TPM1). 12473556

2002