The mutations of MTAP don't match with uniprot and ncbi

I found that many of the mutations of MTAP (Uniprot ID: Q13126) don’t match with any sequence from uniprot or ncbi. For example, HCT116 has a mutation p.V106A, but on uniprot, the 106 should be R. And there are many other mutations of MTAP have the same problem.


Thanks for reaching out. Do you mind sharing where you saw that 106 should be an R? We checked on Uniprot and CCDS and weren’t able to confirm it. Thanks!


Hi Simone,

I was looking at Q13126-2. Sorry, the 106 should be a D. But anyway, it is not a V as DepMap suggested. And there are other missmatch: for HEC6 cell line, 79 should be W rather than G, 160 should be G rather than P, but the 208A is right. So it is really confusing.


Hi Kaiqiang,

Apologies for the delay. I looked into it more and it appears to have originated from Funcotator, which is the tool we use to annotate variants after mutect2. I am suspecting this could be a problem in their data sources, specifically the version of Gencode they are using. We will reach out to them and see what can be done.