Table 3 of Xu, Mol Vis 2021; 27:270-282.

Table 3. Site information and functional annotation of variants in COX3 identified from SKAT analysis.

Gene Position Refer allele Alter allele Amino acid change Mtoolbox Mitoclass 1 APOGEE Published disease association
COX3 9300 G A A32T neutral neutral neutral sudden unexpected infant death [36]
COX3 9316 T C F37S neutral damaging neutral -
COX3 9327 A G T41A neutral damaging neutral -
COX3 9355 A G N50S neutral damaging pathogenic -
COX3 9468 A G T88A neutral neutral neutral -
COX3 9612 G A V136M deleterious damaging neutral -
COX3 9804 G A A200T neutral damaging pathogenic LHON/ TOF/ MELAS/OAG [37–40]
COX3 9957 T C F251L neutral damaging neutral MELAS / NAION /CPEO/ HCM / gout [41–45]
COX3 9966 G A V254I neutral neutral neutral -

SKAT: sequence kernel association test; LHON: Leber hereditary optic neuropathy; TOF: tetralogy of Fallot; MELAS: mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes; OAG: open-angle glaucoma; NAION: non-arteritic ischemic optic neuropathy; CPEO: chronic progressive external ophthalmoplegia; HCM: hypertrophic cardiomyopathy.

Xu, Mol Vis 2021; 27:270-282. http://www.molvis.org/molvis/v27/270

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