How To Read Mutation Data From Cbioportal

Question

[Nims]

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

Answer 1

[Devon Ryan]

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.

[Nims]

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.

[Devon Ryan]

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.