QuestionSBA
QuestionChoice
A missense mutation is a single nucleotide substitution which produces a non-redundant codon change, but does not introduce a stop codon. An example is the BRAF V600E mutation in cancers such as melanoma.
10001147
b
Missense
QuestionChoice
This would not be a single nucleotide change as to remain in-frame, deletions must occur in multiples of 3 nucleotides. In-frame additions and deletions are common at 3-nucleotide repeat microsatellites, such as the CAG repeats in the Huntingtin gene.
10001148
c
In-frame deletion
QuestionChoice
A frameshift mutation occurs upon the addition or deletion of nucleotides (not in multiples of 3) which alter the reading frame of the mRNA, meaning each subsequent amino acid is different. This makes the protein misfold and become non-functional.
10001149
d
Frameshift deletion
QuestionChoice
A nonsense mutation is a single nucleotide substitution which produces a stop codon (UAA, UAG or UGA), truncating the protein without changing any other amino acids.
10001146
a
Nonsense
QuestionChoice
Splice-site mutations occur when a GT-AG splice consensus site is added or removed by a missense mutation. These can cause the inclusion of an intronic sequence or the removal of an exon. An example of a splice-site mutation is the  MYBPC3 gene in hypertrophic cardiomyopathy.

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10001150
e
Splice-site mutation
Concept
Chapter
2693
3890
Mechanisms of genetic disorders
Topic
156
Medical Genetics
12776
A single nucleotide change causing a stop codon and truncating a protein without changing any subsequent amino acids is called what?
a