rs199476305, TPM1

N. diseases: 2
Disease: Muscle Rigidity ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Muscle Rigidity
CUI: C0026837
Disease: Muscle Rigidity
0.010 GeneticVariation BEFREE Our results show that E62Q tropomyosin destabilizes thin filament off-state function by increasing calcium-sensitivity, but without apparent affect on global tropomyosin structure by modifying coiled-coil rigidity. 29626422 2018