Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894501
rs104894501
TPM1
0.040 GeneticVariation BEFREE In order to understand how the dilated cardiomyopathy-causing Glu40Lys mutation in TM affects actomyosin interactions, thin filaments have been reconstituted in muscle ghost fibers by incorporation of labeled Cys707 of myosin subfragment-1 and Cys374 of actin with fluorescent probe 1.5-IAEDANS and α-tropomyosin (wild-type or Glu40Lys mutant). 21741356

2011
dbSNP: rs104894501
rs104894501
TPM1
0.040 GeneticVariation BEFREE The Glu40Lys and Glu54Lys mutations in alpha-tropomyosin cause dilated cardiomyopathy (DCM). 19222994

2009
dbSNP: rs104894501
rs104894501
TPM1
0.040 GeneticVariation BEFREE E40K and E54K mutations in alpha-tropomyosin cause inherited dilated cardiomyopathy. 17360712

2007
dbSNP: rs104894501
rs104894501
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