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Assuming that the G48R,D92N mutations were gain of function, we combined these cancer-associated mutations with the inactivating mutation R128A,R135A on helix α4.
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For the AG repeats, all five mutations were gains.
The average estimated rate across loci isµ= 8.87 × 10−4 and the great majority of mutations were gains or losses of a single repeat.
A survey of dinucleotide repeats across the entire Arabidopsis genome indicates that AT repeats are most abundant, followed by CT, and CA. The great majority of mutations were gains or losses of a single repeat.
The second type of mutations is gain of function, that is, emergence of a new functional upstream start codon.
K-ras codon 12 mutation is one of the earliest genetic changes in the development of pancreatic cancer (PC) and accurate detection of K-ras mutations is gaining increasing attention in the field of molecular diagnosis.
In this report it was also shown that all mutations are gain-of function mutation by either transporting more calcium or displaying impaired inactivation.
This contradicts the concept of the mutations being gain-of-function mutations.
These data show unequivocally that WT1 Wilms2 and WT1 Wilmutationsions are gain-of-function mutations.
Functional insights – Evidence strongly suggests that DNAJB6-myopathy mutations are gain-of-deleterious-function mutations.
Algorithms that predict the deleterious nature of nonsynonymous mutations are gaining value in genome interpretation, especially in medicine.
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