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Among the top 50 expressed genes, the ones with known disease-related mutations were listed.
In the BID database, the alanine mutations were listed as either "strong", "intermediate", "weak" or "insignificant".
To determine ROC values, the mutations were listed from highest to lowest according to their eSDC value.
Note Added in Proof: Although MET-R988C and MET-T1010I mutations were listed in COSMIC as somatic cancer mutations, these nucleotide changes correspond to SNPs rs34589476 and rs56391007 in the NCBI SNP data base, respectively.
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For each LHON and control cell line (cybrids and fibroblasts), the haplogroup affiliation and the full list of non-synonymous mtDNA mutations are listed in Table 1.
We found several of these mutations present in the pol gene – specifically in the protease and reverse transcription regions,, and these mutations are listed in Table 5 and shown in Figure 3C along with the associated base substitution rates.
Surprisingly, rather than occurring in functions related to DNA metabolism, they fell into four metabolic genes (pgk, pgm, eno and pykA) ensuring the terminal reactions of glycolysis (Fig. 1A, the suppressed strains and metabolic mutations are listed Table 2).
The mutations are listed in Table 1.
Specific mutations are listed in Table 2.
The identified DNA mutations are listed in Table 2.
The mutations are listed as, for example, I341 t.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com