Troponin C
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The tissue specific subtypes are:
- Slow troponin C, TNNC1 (3p21.1 Online Mendelian Inheritance in Man (OMIM): 191040)
- Fast troponin C, TNNC2 (20q12-q13.11, Online Mendelian Inheritance in Man (OMIM): 191039)
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Mutations
Point mutations can occur in troponin C inducing alterations to Ca2+ and Mg2+ binding and protein structure, leading to abnormalities in muscle contraction. In cardiac muscle, they are related to dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM).
These known point mutations are:
- A8V
- D145E
- A31S
- C84Y
- E134D
- Y5H
- I148V
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