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First, cells derived from the patient with a UBE3A mutation had the same cellular phenotype as cells derived from the large deletion patients.
By inserting copies of the DNA fragment into pigment-producing cells in a laboratory dish, they found that the mutation had the same effect, cutting melanin production, as human mutations did.
However, the sob7-1 mutation had the opposite effect on flowering time in combination with phyA-211.
As previously noted the P19A mutation had the most profound destabilizing effect; the other mutations were only slightly destabilizing.
Of these three mutations, the yfjK mutation had the greatest effect when present alone in the Founder Δe14 background.
In these clusters, INH resistant isolates with the katG315Thr mutation had the highest occurrence (51/57 or 89.5%).
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The mutation has the opposite effect of the one found in Colombia: people with the mutation are more likely to retain sharp cognitive abilities well into their nineties.
This is not surprising: the bigger the effect a mutation has, the bigger the chance that it will be something disruptive, so mutations that have dramatic effects are likelier to be harmful than mutations that produce modest changes.
Among the three disease variants, the A53T mutation has the most subtle effect upon lipid binding.
In particular, men with an MSH2 mutation have the highest risk for several types of cancers.
The other patient with a V408M mutation has the mildest phenotype associated with a FOXP3 mutation to date.
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