Table A.

MELAS: Genes and Databases

GeneChromosome LocusProteinClinVar
MT-CO2 Mitochondrion Cytochrome c oxidase subunit 2 MT-CO2
MT-CO3 Mitochondrion Cytochrome c oxidase subunit 3 MT-CO3
MT-CYB Mitochondrion Cytochrome b MT-CYB
MT-ND1 Mitochondrion NADH-ubiquinone oxidoreductase chain 1 MT-ND1
MT-ND5 Mitochondrion NADH-ubiquinone oxidoreductase chain 5 MT-ND5
MT-ND6 Mitochondrion NADH-ubiquinone oxidoreductase chain 6 MT-ND6
MT-TC MitochondrionNot applicable MT-TC
MT-TF MitochondrionNot applicable MT-TF
MT-TH MitochondrionNot applicable MT-TH
MT-TK MitochondrionNot applicable MT-TK
MT-TL1 MitochondrionNot applicable MT-TL1
MT-TL2 MitochondrionNot applicable MT-TL2
MT-TQ MitochondrionNot applicable MT-TQ
MT-TS1 MitochondrionNot applicable MT-TS1
MT-TS2 MitochondrionNot applicable MT-TS2
MT-TV MitochondrionNot applicable MT-TV
MT-TW MitochondrionNot applicable MT-TW

Data are compiled from the following standard references: gene from HGNC; chromosome locus from OMIM; protein from UniProt. For a description of databases (Locus Specific, HGMD, ClinVar) to which links are provided, click here.

From: MELAS

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