Pompe disease is a rare genetic condition resulting from a deficiency of the protein alpha-glucosidase. The following three mutations are among the 100+ mutations known or suspected of causing the disease. Context is provided in parentheses. Provide a brief hypothesis as to why the change would be damaging to the protein. a.) L571P (located in a helix buried in the protein interior)
Gene Interactions
When the expression of a single trait is influenced by two or more different non-allelic genes, it is termed as genetic interaction. According to Mendel's law of inheritance, each gene functions in its own way and does not depend on the function of another gene, i.e., a single gene controls each of seven characteristics considered, but the complex contribution of many different genes determine many traits of an organism.
Gene Expression
Gene expression is a process by which the instructions present in deoxyribonucleic acid (DNA) are converted into useful molecules such as proteins, and functional messenger ribonucleic (mRNA) molecules in the case of non-protein-coding genes.
Pompe disease is a rare genetic condition resulting from a deficiency of the protein alpha-glucosidase. The following three mutations are among the 100+ mutations known or suspected of causing the disease. Context is provided in parentheses.
Provide a brief hypothesis as to why the change would be damaging to the protein.
a.) L571P (located in a helix buried in the protein interior)
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