[HTML][HTML] Mechanistic heterogeneity in contractile properties of α-tropomyosin (TPM1) mutants associated with inherited cardiomyopathies
The most frequent known causes of primary cardiomyopathies are mutations in the genes
encoding sarcomeric proteins. Among those are 30 single-residue mutations in TPM1, the
gene encoding α-tropomyosin. We examined seven mutant tropomyosins, E62Q, D84N,
I172T, L185R, S215L, D230N, and M281T, that were chosen based on their clinical severity
and locations along the molecule. The goal of our study was to determine how the
biochemical characteristics of each of these mutant proteins are altered, which in turn could …
encoding sarcomeric proteins. Among those are 30 single-residue mutations in TPM1, the
gene encoding α-tropomyosin. We examined seven mutant tropomyosins, E62Q, D84N,
I172T, L185R, S215L, D230N, and M281T, that were chosen based on their clinical severity
and locations along the molecule. The goal of our study was to determine how the
biochemical characteristics of each of these mutant proteins are altered, which in turn could …