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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Pro

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Against

Evidence from Studies

Supporting (1)

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Community contributions welcome

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Disease-Associated Mutation A554V Disrupts Normal Autoinhibition of DNMT1

Cross-Sectional Study

In Vitro

2023 Sep

The study confirms that the A554V mutation changes the structure of the full DNMT1 protein (shown by CD spectrum changes) but doesn't significantly change the isolated RFTS domain alone - exactly what the claim says.

Contradicting (0)

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No contradicting evidence found

Gold Standard Evidence Needed

According to GRADE and EBM methodology, here is what ideal scientific evidence would look like to definitively prove or disprove this specific claim, ordered from strongest to weakest evidence.

Source Study

Disease-Associated Mutation A554V Disrupts Normal Autoinhibition of DNMT1

Score: 4

DOI: 10.3390/dna3030010

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