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The Tumornators Isam Adam, Cody Boehner, Ella Dehestani, Jason Fong, Anissa Santiago Friday Lecture Group Consensus Key Points With a given mutation, it can be identified as either pathogenic, implicated, associated, damaging, and deleterious mutations. A mutation in a “conserved” area will likely cause a major change because “conserved” areas are the same among many organisms A disease can be categorized into different classifications, depending on how much genetic, biochemical, and other information is given about the disease. If a person has the phenotype of a damaging disease, but it is incompletely penetrant, the person may not have any symptoms. Friday Lecture Group Consensus Questions If an incompletely penetrant disease is heritable, and a parent with an incompletely penetrant disease passes it on to its offspring, will the disease still be incompletely penetrant or will the offspring experience symptoms? Given a pedigree and DNA/chromosomal information, can we almost always attribute a disease causing mutation to one of the above categories? Wednesday Lecture Group Consensus Key Points Major missense mutations occur when the amino acid that is changed is significantly different than the correct amino acid. The changing on one amino acid to an amino acid with similar properties cause minor missense Mutations that occur in an unconserved are not typically disease causing, even if the mutation is rare. Wednesday Lecture Group Consensus Questions If there is a mutation that happens to be major missense, but the disease is incompletely penetrant, will the person with the mutation show symptoms? Is there a quicker way to identify the mutation in a gene that's causing a particular disease?