Miss R

Beta- thalassemia ? this is the one disease I could find under nonsense mutation and is centred in the Mediterranean. I looked at Tay Sach's but that's prevalent in Jewish community and is commonly due to insertion mutation. Would it result in production of a faulty protein ? I am not quite sure

Ok, insertions are when a base is added to a sequence, is also known as frameshift mutation because they can change the whole codon, I think. Missense is when a codon changes to a different one, I actually got an example of this , it would be sickle cell anaemia. as the code changes. nonsense is when the code changes to a stop codon and thus early termination of a protein etc cant find any disease example of this... Splice site mutation currently having problem understanding this one despite reading about it That's what I thought with Huntington disease, so then it can be categorised under both repeat amplification and insertion mutations? Let me know what you think

Hi, Can anyone give me an example of each of the type of mutations. I have tried researching but im getting more and more confused. Insertions Missense mutation Nonsense Splice site I know the diseases with deletions and microdeletions, and repeat amplifications, but not sure about these ones. Also, would you consider huntington disease as a trinucleotide repeat amplification or insertion/deletion ? Please help !