|MadSci Network: Cell Biology|
There are many ways to diagnose protein abnormalities. For example in sickle cell, one amino acid in haemoglobin is mutated to a different amino acid in the sickle form of the protein but not in the normal form. This mutation can be detected by monitoring the change in mass with mass spectrometry of the protein or mass spectrometry of proteolytic digests of the protein. There are many other methods to detect protein abnormalities including uncharacteristic enzymatic activity in enzyme assays and different/noncharacteristic binding to antibodies.
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