Question

You have performed exome sequencing and have identified a gene in which two different mutant forms are prevalent. Each mutation is a missense mutation, but they are found in different parts of the gene. What can you conclude about these mutations

Answer 1

Missense mutations may have different effects

Step-by-step explanation:

A missense mutation is a single base-pair nucleotide change that causes an amino acid substitution in the resulting protein chain. A missense mutation may have distinct effects depending on the amino acid that is replaced in the mutated protein. For example, it is expected that the substitution between similar amino acid residues (such as, for example, leucine and isoleucine) may have no effect, while the replacement of one amino acid with another amino acid with different properties/charges/functional groups may render the protein nonfunctional. Similarly, it is expected that missense mutations localized at different exons/gene regions render different functional effects on the resulting protein isoforms.