Relatively often, a novel mutation is explained by a local DNA sequence change, affecting one or a few adjacent nucleotides.
The greater severity of the T158M mutation is explained by more extreme destabilization of the protein, coupled with reduced affinity for modified DNA.
The premise for these mutations is explained in the classic "ABC model" of floral development for Arabidopsis [ 1, 2].
We only tested principal components with an eigenvalue >2 reflecting that ≥3% of the variability of the mutations was explained.
Thus, the presence of RP phenotype and this mutation could be explained because the second mutation would be a severe allele or would be due to fortuitous association.
However, most of the increase in their mutation rates is explained by the high mutation bias of the {C > G | 1, CG} context itself.
Since the recurrence of the c.833T>C mutation cannot be explained by any known mutational hotspot in the vicinity of c.833T, a different mutational mechanism should be considered.
The latter results concerning ACVR1 mutation can be explained by the segregation of this alteration with H3.1-K27M H3.1-K27Mrather than the reverse.
For instance, the adRP phenotype present in patients carrying the p.G56R mutation cannot be explained by a defect in DNA-binding alone [20] [22].
We then tested whether the sensitivity of cortical neurons to spg4 mutation could be explained by a cell-type specific expression of different spastin isoforms.
