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This is the most abundant mutation in our FMF cohort and is present in 70% of the patients.
The most abundant mutation of codon 12 is G12D, followed by G12V and G12C while G13D is the predominant mutation in codon 13.
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Amplification of bulk samples will only show the most abundant mutations which may or may not play a significant role in disease development under mutational load conditions.
The most abundant mutations at the 5′-target were short (1-21-nt) deletions.
Single nucleotide polymorphisms (SNPs) are the most abundant mutations between related DNA molecules.
Transversions (38/63) were the most abundant mutations in the sequences of these two species, whereas insertions (4/63) were the least abundant (Table 3).
This is particularly clear for the most abundant mutations affecting the γ-secretase cleavage sites, which all result in the generation of the longer Aβ42 peptide.
The detailed analysis of two of these regions with lengths 4,220 and 4,044 bp and identities of 94% and 89% relative to their nuclear counterparts, showed a transition/transversion mutation ratio of 2.2 and 3.8 respectively, with CMit → TNuc and GMit → ANuc the most abundant mutations found, and CMit → ANuc the most representative transversion mutations.
Detection of its repeated mutation in independent tumors would indicate positive selection for cells that acquire the mutation, but its presence at levels significantly lower than the most abundant mutations within a tumor would suggest acquisition at a stage of tumor development after significant clonal expansion had already occurred.
Interestingly, the most abundant type of mutation is a K to R (Lys to Arg) mutation and vice versa, which occurred six times at different locations in the HA molecules.
The most abundant type of mutation observed in the D-loop region of endometrial carcinomas is mtMSI.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com