mash
Forum Fanatic
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It has been observed that missense mutations in the fibrillin-1 gene on chromosome 15 often produce more severe presentations of Marfan syndrome than do nonsense mutations in the same gene. Explain this.
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| Bela
Forum Guru
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Ok, I think the key here is the difference between the Missence and Nonsence mutations.
In missence mutations, a base is substituted for another (like in the case of sickle cell), therefore the new codon specifies a different AA :arrow: changes in function.
In nonsense mutations, the new codon is a stop codon and protein is shorter than normal but I think it doesn't cause much trouble, especially when this happens at the end of the genetic material.
However I could be wrong. Someone else has a different explanation??? :?
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