of Mutations and Their Consequences

Nucleotide Substitutions

Missense Mutations

Nonsense Mutations

Whereas some point mutations create a premature termination codon, others may destroy the normal termination codon and thus permit translation to continue until another termination codon in the mRNA is reached further downstream. Such a mutation will lead to an abnormal protein product with additional amino acids at its carboxyl terminus, and may also disrupt regulatory functions normally provided by the 3′ untranslated region downstream from the normal stop codon.

Mutations Affecting RNA Transcription, Processing, and Translation

For protein-coding genes, even if the mRNA is made and is stable, point mutations in the 5′ and 3′-untranslated regions can also contribute to disease by changing mRNA stability or translation efficiency, thereby reducing the amount of protein product that is made.

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Nov 27, 2016 | Posted by in GENERAL & FAMILY MEDICINE | Comments Off on of Mutations and Their Consequences

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