The receptor was the first one I checked, and sure enough I have a single-nucleotide deletion 42 amino acids in to the open reading frame (ORF) of the 389 amino acid protein. That will induce a frameshift error, completely fucking up the rest of protein.
I’m kind of astonished that this kind of advance prediction panned out!
I admit I was somewhat surprised as well. On a gut level, I did not think that the very first things to check would turn up such a clear and simple answer.
I’m insufficiently knowledgeable about deletion base rates to know how astonished to be. Does anyone have an estimate of how many Bayes bits such a prediction is worth?
FWIW, GPT-5T estimates around 10 bits, double that if it’s de novo (absent in both parents).
I’m kind of astonished that this kind of advance prediction panned out!
I admit I was somewhat surprised as well. On a gut level, I did not think that the very first things to check would turn up such a clear and simple answer.
I’m insufficiently knowledgeable about deletion base rates to know how astonished to be. Does anyone have an estimate of how many Bayes bits such a prediction is worth?
FWIW, GPT-5T estimates around 10 bits, double that if it’s de novo (absent in both parents).