Asked by: Jemina Kihn
Asked in category: science, genetics
Last Updated: 5th May 2024

Is the sickle cell hemoglobin mutation a point mutation or a shift mutation?

Types of DNA Changes
Type of Mutation Type of Mutation Human Diseases (or Associated With This Mutation)
Point mutation Substitution Sickle cell anemia
Insertion One type of beta-thalassemia
Elimination Cystic Fibrosis
Chromosomal mutation Inversion Opitz-Kaveggia syndrome



What type of point mutation can you identify as sickle cell anemia?

Sickle-cell anemia results from a point mutation in the I2-globin link of hemoglobin. This causes the hydrophilic amino acids glutamic acid and valine to be replaced at the sixth position. On the short arm of chromosome 11, you will find the I2-globin gene.

Is Sickle Cell Anemia also a mutation? One nucleotide substitution (A-to-T) is the mutation that causes sickle cell anemia. It occurs in the codon of amino acid 6. This change transforms a glutamic codon (GAG), to a valine codeon (GTG). The hemoglobin form in sickle cell patients is called HbS.

Also, do you know if frameshift mutation is a type point mutation?

Scientists recognize a second type of mutation, the frameshift mutation, which is a form of point mutation. Frameshift mutations can cause severe loss of function. They are caused by the addition or deletion one or more DNA bases.

What's the difference between a missense and a point mutation?

Point mutations are when one base of the DNA is changed to another. A missense mutation is when a point mutation causes another amino acids to be placed at that codon. Multiple codons can code for the exact same amino acid so not all point mutations will result in a missense mutation.