Scientists found that a small genetic change called A554V makes a protein involved in DNA copying slightly less stable when heated, dropping its stability by about 2 degrees Celsius - but this doesn't happen when they look at just the part of the protein where the change occurs.

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Evidence from Studies

Supporting (1)

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Disease-Associated Mutation A554V Disrupts Normal Autoinhibition of DNMT1

Cross-Sectional Study

In Vitro

2023 Sep

The study examined the A554V mutation in DNMT1 and found that it reduces the thermal stability of the full protein containing the RFTS domain, while the isolated RFTS domain alone remains unchanged - exactly what the claim describes.

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No contradicting evidence found

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Source Study

Disease-Associated Mutation A554V Disrupts Normal Autoinhibition of DNMT1

Score: 4

DOI: 10.3390/dna3030010

Similar Assertions

Scientists found that a specific genetic change called A554V makes a small part of a protein slightly less folded, but when they look at just that small part by itself, it looks completely normal.

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