no protein in the result of Normalizer

[vasvale]

input NC_000011.9:g.47364696_47364697insACC gives no protein result

[vasvale]

should it be NC_000011.9(MYBPC3_i001):p.(Lys409_Tyr410insVal)

?

[jfjlaros]

That is correct. Since no transcript is selected, no protein prediction is given. Mutalyzer does however suggest one equivalent description relative to a transcript: NC_000011.9(NM_000256.3):c.1227_1228insGTG.

In this particular case though, the insertion interferes with a splice site, so no prediction is given.

[vasvale]

it's a potential splice site interference since the ASS is preserved, should Mutalyzer give a protein output perhaps with a warning?

[jfjlaros]

I think the best option would be to run a splice site predictor in those cases. For now Mutalyzer is trying to be cautious. In many cases no answer is better than a wrong or uncertain answer.