Perform the following BLAST analysis on your allocated sequence and answer the following questions based on the results. Plagarism will result in an automatic score of zero.
1. Identify the gene 5%
Homo sapiens cytochrome P450 family 24 subfamily A member 1 (CYP24A1), transcript variant X3, mRNA
2. Show the results of your BLAST analysis obtained at both nucleotide (2%) and protein (2%) level and identify the types of mutation(s) present (6%). You should also highlight where the mutations occur on the copied alignments obtained from BLAST
Figure 1: showing the results of BLAST obtained at a nucleotide level.
There is a single nucleotide base substitution from nucleotide base ‘C’ at subject position 1592 to nucleotide base ‘T’ at…show more content… This occurs in monocytes and macrophages but not in dendritic cells.
As this enzyme regulates the level of vitamin D3, this enzyme also plays a role in calcium homeostasis and the vitamin D endocrine system. (RefSeq, 2008)
It was also shown that the CYP24A1 enzyme is expressed in many, if not all, target cells containing the vitamin D receptor (VDR), including kidney, bone, intestine, etc. and is strongly inducible by vitamin D receptor agonists in such tissues.
The structure of the CYP24A1 gene is generally the same throughout different species but the function can vary for example; there different spliced transcript variants encoding different isoforms have been found for this gene.
6. State the allelic variant listed in OMIM that corresponds with the mutation you have identified (5%). Does this variant result in a clinical phenotype or specific condition? If so, describe its characteristics and clinical presentation. (15% ) (Total Maximum 300 words)
Figure 3: Table showing the allelic variants for the CYP24A1 gene
The table shows that there are 7 different allelic variants associated with the CYP24A1 gene. Although this is the case, the variant number .0005 Hypercalcemia infantile 1 is the only variant that corresponds with the mutation I have identified as it changes from amino acid Arginine (R) in the subject to Tryptophan (W) in the query.
This variant results is a pathogenic clinical significance. It causes