Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1212453165
rs1212453165
TPM1
0.040 GeneticVariation BEFREE Mice with Glu54Lys mutation in α-tropomyosin (Tm54) demonstrate typical DCM phenotype with reduced myofilament Ca2+ sensitivity. 28379313

2017
dbSNP: rs1212453165
rs1212453165
TPM1
0.040 GeneticVariation BEFREE The Glu40Lys and Glu54Lys mutations in alpha-tropomyosin cause dilated cardiomyopathy (DCM). 19222994

2009
dbSNP: rs1212453165
rs1212453165
TPM1
0.040 GeneticVariation BEFREE To investigate the functional consequences of alpha-TM mutations associated with DCM, we generated transgenic mice that express mutant alpha-TM (Glu54Lys) in the adult heart. 17556658

2007
dbSNP: rs1212453165
rs1212453165
TPM1
0.040 GeneticVariation BEFREE Five Tm mutations were chosen for this study: the hypertrophic cardiomyopathy (HCM) mutations E62Q, E180G, and L185R and the dilated cardiomyopathy (DCM) mutations E40K and E54K. 16043485

2005