Examples of Human Disorders Caused by Single-Gene Mutations

Examples of Human Disorders Caused by Single-Gene Mutations Type of DNA Mutation Disorder Molecular Change Missense Achondroplasia Glycine to arginine at position 380 oFFGFR2 gene Nonsense MarFan syndrome Tyrosine to STOP codon at position 2113 offibri/Iin-1 gene Insertion Familial hypercholesterolemia Various short insertions throughout the LDLR gene Deletion Cystic fibrosis Three-base-pair deletion of phenylalanine codon at position 508 oFCI-TR gene Trinucleotide Huntington disease >40 repeats oF(CAG) sequence in coding region of Huntingtin gene repeat expansions