Phenotypic variation is the normal variation that is apparent in any family, but it is also the presence or absence of disease or disease susceptibility between individuals in families and populations. As geneticists, we identify genes and genetic variants, and relate this information to phenotypic variation. The rationale of this final assessment is to
understand genetics in a professional context by linking specific genetic variant(s) to protein function and phenotypic variation. The report is a maximum of 1000 words (there is no minimum word count).
The report will include:
1. Name of the gene
2. Summary of mutations or polymorphisms associated with that gene
3. Phenotypic changes associated with the mutation(s) or polymorphisms
4. An explanation that provides a link between the mutation, protein function, and phenotypic variability
To complete this assessment you must choose ONE of the following genes:
1. IRF3
2. Leptin (LEP)
3. PTEN
4. MeCP2
5. TLR3
There will be workshop on Wednesday May 25th at 4:00PM (Collaborate, recorded) to discuss the assessment. I would strongly recommend UniProt (see Assessment 1) as the starting point in gathering information about your gene of choice.
As described above, an important part of this assessment is describing how a mutation affects the function of a protein and jow this then leads to changes in phenotype. In the online lectures we have explored several experimental methods that arre used to understand the biological significance of a mutation. Such biological experiments can be aided by bioinformatic approaches, including multiple sequence alignments, that identify conserved domains.