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.

Only gold members can continue reading. Log In or Register to continue

Nov 27, 2016 | Posted by in GENERAL & FAMILY MEDICINE | Comments Off on of Mutations and Their Consequences
Premium Wordpress Themes by UFO Themes
%d bloggers like this: