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Epilepsy-Causing Mutations

The Importance of Protein Structure to Function

By Rita E. Sharp

Epilepsy-Causing Mutations


 

Abstract

This directed case study walks students through an examination of normal protein structure so that they can recognize the role of amino acids and different types of bonds to form the four levels of protein structure and to help them diagnose what happens when there is a mutation that results in a change in the protein structure. The case centers around a student learning about a voltage-gated ion channel that has been found to cause epilepsy when certain mutations exist. Before beginning the case study, students should receive a short lecture about proteins and read the corresponding book chapter talking about proteins when introducing macromolecules to introductory biology students. Then, students are asked to work through the case in small groups. The case covers the four levels of protein structure, the three classes of amino acid side chains, the types of bonds that form the levels of protein structure, and how changes of even a single amino acid can change protein structure and function.

   

Date Posted

07/28/2025

Overview

Objectives

  • Define the four levels of protein structure and the types of bonds that help form those levels of structure.
  • Distinguish the three different classes of amino acids based on their side chains: hydrophobic, polar, and charged.
  • Differentiate the types of bonds and interactions that can form within a protein by different classes of amino acids.
  • Evaluate how changes to the amino acid sequence (primary structure of the protein) affect protein function.

Keywords

Protein structure; levels of protein structure; structure-function relationships; protein function; amino acids; macromolecules; ion channel; voltage-gated channel; bonds in proteins; epilepsy; Kv7.2

  

Subject Headings

Biochemistry
Biology (General)
Molecular Biology

EDUCATIONAL LEVEL

Undergraduate lower division

  

FORMAT

PDF

   

TOPICAL AREAS

N/A

   

LANGUAGE

English

   

TYPE/METHODS

Directed, Discussion

 

 

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