How To Read Mutation Data From Cbioportal

As a novice I am unable to get to the semantics and implications of a given mutation or copy number alterations. Can somebody please explain it for me:

TP53 - R306* - Nonsense [I got this one that at 306 there is a stop codon now, am I right?]
NEB - T330fs - Frameshift
NF1 - K1444E - Missense [I got this that 1444 its now E instead of K]
MIB1 - V178_splice - Splice Site
SFPQ - QAN531del - Deletion

Copy number alterations -

SLC2A2 - 3q26.1-q26.2 - AMP
PTEN - 10q23.3 - HOMDEL

mutation

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updated 12.2 years ago by Biostar

• written 12.5 years ago by Nims •

1 answer

These are described here. If you're really unfamiliar with what a frameshift is, then you would do well to just take a genetics class.

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written 12.5 years ago by Devon Ryan

Thanks, for helping. Do you have any link which describes how to read these symbolic forms like K1444E etc.? Question was more about that only as I am already aware of mutations and CNVs theoretically.

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written 12.5 years ago by Nims •

The best resource that I can direct you to would be the HGVS, which I believe standardized former naming practices (though I may have my history wrong there). For missense mutations, AXXXB, where A and B are amino acids and XXX is a number, always means a change of A to B at position XXX of whatever protein is being discussed.

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written 12.5 years ago by Devon Ryan