Skip to main content

Table 1 Selected mutations associated with human mitochondrial disorders

From: Survey of human mitochondrial diseases using new genomic/proteomic tools

Disorder Affected protein DNA change Protein change Evolutionary conservation Structural environment
LHON ND4 G11778A R340H Absolute N/A
  ND1 G3460A A52T Slight N/A
  ND6 T14484C M64V Moderate N/A
   G14459A A72V High N/A
Leigh syndrome ATP6 T8993G L156R Absolute Subunit interface
  PDHA1 C892G R263G Slight Near active site
  SURF1 G385A G124E Absolute N/A
   T751C I246T High Predicted β-sheet
  SDHA C1684T R554W High Surface-exposed
MNGIE TP G1419A G145R High Near active site
   G1443A G153S Absolute Near active site
   A2744G K222S Absolute Near active site
   A3371 E289A Absolute Notin active site
Deafness-dystonia DDP1 T151del (1 nt) Truncation - see text High N/A
   A183del (10 nt) Truncation - see text High NA
   C198G C66W Absolute N/A
Iron-storage ABCB7 ATT → ATG I400M High Predicted tight turn
HSP Paraplegin 784del (2 nt) 60% truncated High N/A
   2228ins (1 nt = A) 7.2% Truncated Moderate N/A
  1. ABCB7, ATP-binding cassette, subfamily B, member 7; ATP4, adenosine triphosphate synthase subunit 4 (ATP6 - subunit 6); DDP1, deafness-dystonia peptide 1, del, deletion; HSP, hereditary spastic paraplegia; ins, insertion; LHON, Leber's hereditary optic neuropathy; MNGIE, mitochondrial neurogastrointestinal encephalomyopathy; N/A, not available; ND, NADH dehydrogenase; ND1 ... NDn, ND subunits 1 ... nt, nucleotide; PDHA1, pyruvate dehydrogenase subunit E1α; SDHA, succinate dehydrogenase subunit A; SURF1, surfeit locus protein 1; TP, thymidine phosphorylase.