Question

What kind of mutation is p.R347H?

What kind of mutation is 0.D979A?

What kind of mutation it delta F508?

Answer key:

Transverse

nonsense

aneuploidy

inversion

missense

polyploidy

transition

translocation

deletion

insertion

frameshift

Answer 1

Answers:-

1) p.R347H is a missense mutation.

It occurs in cystic fibrosis where a single nucleotide is changed, thus results in products of different codon.

2)0.D979A is a deletion mutation.

This type of mutation occurs in cystic fibrosis,in which there is deletion of three DNA bases that results in different protein formation.

3)delta F508 is a deletion mutation.

Mutation in DeltaF508 results from deletion of three nucleotides bases which results in a loss of phenylalanine at the 508th position on the protein. This results in abnormal folding of the protein and gets degraded sooner.