The function of HOXD13 Transcript & Human Protein Sequences - Genetics Assignment Help

Assignment Task

Questions

1. Provide a short description of the function of HOXD13

2. Using the FASTA format of the HOXD13 transcript, translate the three forward frames of the transcript. What is the correct reading frame (Frame 1, 2 or 3) [1 mark]? In your report, paste a FASTA format of the translated HOXD13 protein, and in the figure, the legend indicates the number of amino acids in the HOXD13 protein, the total length of the Homo sapiens HOXD13 mRNA transcript, the nucleotide accession number for this transcript, and the number of 5’ and 3’ nucleotides that are not translated.

3. Construct a multiple protein sequence alignment using human HOXD13 and 9 other orthologues of human HOXD13. In the figure legend, describe what is being shown, and specify the size (start and stop a number of amino acids) and location of the conserved domain(s) in HOXD13.

4. In FASTA format, download the following Human protein sequences for HOXA13,  HOXB13, HOXC13, HOXD13; using the ALIGN function in UniProt, generate a  multiple protein sequence alignment. In the figure legend, describe what is being  shown (orthologues or paralogues?), and comment on DNA conservation, including  a comparison with the alignment presented in question 3  

5. In a table, identify and list 5 mutations in human HOXD13 that have clinically relevant phenotypes. Individual columns need to 1) Identify the position of the mutation (amino acid number and change); Identify the type of mutation (missense, nonsense, frameshift, etc.); the likely effect of the mutation on protein function; the clinical phenotype of the mutation.

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