The vast majority of mutations were missense mutations (84.7 %, 627 of 740), followed by nonsense mutations (8.9 %, 66 of 740), insertions or deletions resulting in frameshift (2.0 %, 14 of 740), and splice site mutations (2.0 %, 15 of 740).
This indicates that despite the apparent high ratio of missense to silent mutations, the vast majority of mtDNA mutations are passengers with no convincing evidence suggesting the existence of driver mitochondrial DNA mutations.
However, the vast majority of mutations are neutral, and the minority of mutations which are beneficial or harmful are often situational; a mutation that is harmful in one environment may be helpful in another.
The vast majority of mutations described to date are point mutations and small insertions and deletions.
However, given that most organisms contain five or more chromosomes, the vast majority of mutations induced by a mutator allele will generally arise on different chromosomes (a fraction 1 − n − 1 with n chromosomes of equal length) or distant from the mutator when on the same chromosome.
The vast majority of mutations in ATP13A2 associated with KRS are truncating mutations arising by deletion, duplication, insertion or splice site mutations (11), although there are two reports of missense variants causing KRS (9, 12).
The vast majority of mutations had an inactivating effect and included missense and frameshift mutations affecting or truncating the C-terminal domains, including the SET domain.
The vast majority of mutations affecting fitness are deleterious; therefore, there is selection pressure to keep mutation rates low.
In triple-negative breast cancer TP53 is the only mutations that occurs at a high percent of patients (80%), while the vast majority of mutations (including PIK3CA, RB1, PTEN, MYO3A, and GH1) occur at low percentages (<10%) in the patient cohorts [ 7].
6, it was evident that the vast majority of mutations occurred near the tips of the gene tree, with 61.54% mutations occurring within 15.6 kyr in the Yangze River basin and 66.67% mutations occurring within 16.2 kyr in the Huai River basin.
