D145E is a
point mutation on
troponin C that leads to
hypertrophic cardiomyopathy disease. This mutation is caused by the change of
nucleotide C to A at nucleotide 435,[1] switching the amino acid
aspartic acid to
glutamic acid, which is located at the
C-terminal tail.[2] Patients with this mutation have different structure on the thin filament and alter the binding of
Ca2+ at the troponin C site IV.[1][3] Further, D145E causes increase in development of force and activation of
ATPase in the presence of Ca2+.[4]
^Kalyva, Athanasia; Parthenakis, Fragiskos I.; Marketou, Maria E.; Kontaraki, Joanna E.; Vardas, Panos E. (2014-04-01). "Biochemical characterisation of Troponin C mutations causing hypertrophic and dilated cardiomyopathies". Journal of Muscle Research and Cell Motility. 35 (2): 161–178.
doi:
10.1007/s10974-014-9382-0.
ISSN1573-2657.
PMID24744096.
S2CID1726747.
D145E is a
point mutation on
troponin C that leads to
hypertrophic cardiomyopathy disease. This mutation is caused by the change of
nucleotide C to A at nucleotide 435,[1] switching the amino acid
aspartic acid to
glutamic acid, which is located at the
C-terminal tail.[2] Patients with this mutation have different structure on the thin filament and alter the binding of
Ca2+ at the troponin C site IV.[1][3] Further, D145E causes increase in development of force and activation of
ATPase in the presence of Ca2+.[4]
^Kalyva, Athanasia; Parthenakis, Fragiskos I.; Marketou, Maria E.; Kontaraki, Joanna E.; Vardas, Panos E. (2014-04-01). "Biochemical characterisation of Troponin C mutations causing hypertrophic and dilated cardiomyopathies". Journal of Muscle Research and Cell Motility. 35 (2): 161–178.
doi:
10.1007/s10974-014-9382-0.
ISSN1573-2657.
PMID24744096.
S2CID1726747.