Types of mutations and their impact on protein function Today's ...
Types of mutations and their impact on protein function Today's ...
Types of mutations and their impact on protein function Today's ...
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“Gain-<str<strong>on</strong>g>of</str<strong>on</strong>g>-functi<strong>on</strong>” <str<strong>on</strong>g>mutati<strong>on</strong>s</str<strong>on</strong>g> are almost always dominant<br />
2 pedigrees showing dominant<br />
inheritance <str<strong>on</strong>g>of</str<strong>on</strong>g> pancreatitis<br />
trypsin<br />
Hereditary pancreatitis is caused by a mutati<strong>on</strong> that causes a digestive enzyme,<br />
trypsin, to become aberrantly active inside the pancreas.<br />
Normally, the pancreas is protected because active trypsin will destroy itself<br />
by cutting at R117. This will split the trypsin <str<strong>on</strong>g>and</str<strong>on</strong>g> inactivate it.<br />
In HP, R117 is mutated to H117. This creates a “super-trypsin” that<br />
cannot be inactivated <str<strong>on</strong>g>and</str<strong>on</strong>g> leads to acute pancreatitis.<br />
pancreatic<br />
acinar cell<br />
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