Cardiac troponin T N-domain variant destabilizes the actin interface resulting in disturbed myofilament function.
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DOI: 10.1073/pnas.2221244120
Abstract: Missense variant Ile79Asn in human cardiac troponin T (cTnT-I79N) has been associated with hypertrophic cardiomyopathy and sudden cardiac arrest in juveniles. cTnT-I79N is located in the cTnT N-terminal (TnT1) loop region and is known for… read more here.
Keywords: ctnt i79n; myofilament; cardiac troponin; relaxed state ... See more keywords