DEFINITION OF MUTATION TYPE

[Federico Colombo]

Hi everyone,

I'm trying to better understand the meaning of the different mutation types reported in cBioPortal (inframe, missense, splice, truncating, etc.), and in particular whether these mutations typically allow the gene to still be transcribed and whether the resulting protein remains functional.

Could anyone point me to documentation or resources that explain this? I checked the FAQs but wasn’t able to find detailed information on these categories.

Thank you very much for your help!

[Nikolaus Schultz]

Hi Federico,

This seems to be basic molecular biology question. I found this glossary about the different types of mutations:

As a general rule of thumb, missense mutations will lead to the translation of the full protein with just a single amino acid changed, which could significantly alter the function of the protein. Truncating mutations may result in shorter proteins, but a process called nonsense mediated decays will often eliminate mRNAs with a premature stop codon, meaning no or very little of the truncated protein is expressed. 

I hope this helps.

Niki.

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