Task 3: Sequence Analysis of NORMAL gene and protein sequences for your disease gene.

Task 3: Sequence Analysis of NORMAL gene and protein sequences for your disease gene.

My disease gene is Disease: X-linked hypophosphatemia rickets, dominant

Normal Sequences

Genomic / Gene: NG_007563.2

mRNA: NM_000444.5

Protein: NP_000435.3

• For your OMIM gene sequence, list the number of exons/introns, mRNA variants, the number of each residues translated from each mRNA variant, and other features. Briefly describe the differences in the mRNA variants (lengths, number of exons/introns), and protein isoforms. Hint: Go to NCBI Gene database, query using your RefSeq accn number (NG_____). Under “Table of contents” click on “NCBI Reference Sequences” to find the mRNA transcripts and isoforms.  To find number of exons and introns, pull down on “Full Report”, and select “Gene table”.  Snip showing the different mRNA transcript variants, and click on each exon table to view the number of exons/introns for each mRNA.  Snip and highlight relevant the steps and answers.
• For the protein sequence of the normal gene, identify the domains using InterPro Scan. List all domains. Compare/contrast the domains from Interpro with what is described in NCBI Gene. What are the GO terms for Molecular Function and Biological Processes for the protein? You can find this in UNIPROT/Interpro). How do the domains relate to the function of the protein? List the domains and their role in a particular molecular function or biological process.
• From Lecture 09 on protein analysis, use any appropriate tools mentioned to analyze the protein sequence to determine if it has any transmembrane helices, signal peptide, or coils. Describe the tool you chose, snip and summarize the results of each tool.