By working out which small mutations will probably be damaging, DeepMind’s AlphaMissense system could help doctors identify the cause of genetic diseases
AlphaMissense has been developed to try to predict whether these genetic variants are harmless or might produce a protein linked to a disease.Sign up to newsletter
A protein-coding gene tells a cell which amino acids need to be strung together to make a protein, with each set of three DNA letters coding for an amino acid. The AI focuses on missense mutations, which are changes to one of the DNA letters in a triplet to another letter and can result in the wrong amino acid being added to a protein. Depending on where in the protein this happens, it can result in anything from no effect to a crucial protein no longer working at all.
People tend to have about 9000 missense mutations each. But the effects of only 0.1 per cent of the 71 million possible missense mutations we could get have been identified so far. AlphaMissense doesn’t attempt to work out how a missense mutation alters protein structure or stability, and what effect this has on its interactions with other proteins, although understanding this could help find treatments. Instead, it compares the sequence of each possible mutated protein to those of
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