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Table 2 Summary of alterations identified only in patients with sensorineural HL

From: Analysis of mitochondrial alterations in Brazilian patients with sensorineural hearing loss using MALDI-TOF mass spectrometry

Patient Alteration Gene Haplogroup Gender Hetero/Homoplasmy Statusa
Mit05 A827G MT-RNR1 L3 – R M Homo Conflicting
Mit12 A827G MT-RNR1 L3 – R M Homo Conflicting
Mit13 A827G MT-RNR1 L3 - R F Homo Conflicting
Mit15 G8363A - G15927A MT-TK MT-TT L3 - X - J M Homo Confirmed Possible helper
Mit17 A1555G MT-RNR1 L3 - D M Homo Confirmed
Mit18 A1555G MT-RNR1 L3 - D M Homo Confirmed
Mit19 A827G MT-RNR1 L3 - R M Homo Conflicting
Mit21 A827G MT-RNR1 L3 - R F Homo Conflicting
Mit24 G709A MT-RNR1 L3 - R - T F Homo Reported
Mit25 T5655C MT-TA L1/L2 M Hetero Reported
Mit27 A827G MT-RNR1 L3 M Homo Conflicting
Mit29 A827G MT-RNR1 L3 - R M Homo Conflicting
Mit32 A827G MT-RNR1 L3 - R F Homo Conflicting
Mit33 A1555G MT-RNR1 L1/L2 M Homo Confirmed
Mit34 G709A MT-RNR1 L3 - R - T F Homo Reported
Mit36 G709A MT-RNR1 L3 - R - T F Hetero Reported
Mit43 G709A MT-RNR1 L1/L2 M Hetero Reported
Mit47 A1555G MT-RNR1 L3 - R - H F Homo Confirmed
Mit48 A1555G MT-RNR1 L1/L2 M Homo Confirmed
Mit49 A827G MT-RNR1 L3 - R M Homo Conflicting
Mit54 G709A MT-RNR1 L3 - R - T M Hetero Reported
Mit57 A827G MT-RNR1 L3 - R M Homo Conflicting
Mit59 A827G MT-RNR1 L3 - R F Homo Conflicting
Mit63 G5821A MT-TC L1/L2 M Homo Reported
Mit74 A827G MT-RNR1 L3 - R - T F Homo Conflicting
Mit77 G12236A MT-TS2 L1/L2 F Homo Reported
Mit85 G709A MT-RNR1 L3 - R M Homo Reported
Mit86 A827G MT-RNR1 L3 M Homo Conflicting
Mit91 G709A MT-RNR1 L3 F Homo Reported
Mit94 A827G MT-RNR1 L3 - R F Homo Conflicting
Mit96 G709A MT-RNR1 L3 - R M Homo Reported
Mit97 A827G MT-RNR1 L3 - R M Homo Conflicting
Mit98 T5655C MT-TA L1/L2 F Homo Reported
Mit99 A827G MT-RNR1 L3 - R M Homo Conflicting
Mit100 T5655C MT-TA L3 F Hetero Reported
Mit102 G709A MT-RNR1 L3 - R - T F Homo Reported
Mit108 T5628C-G988A MT-TA MT-RNR1 L3 F Homo Reported Reported
Mit117 G709A MT-RNR1 L3 M Homo Reported
Mit118 T1291C MT-RNR1 L1/L2 F Homo Unclear
Mit129 A827G MT-RNR1 R - T M Homo Conflicting
Mit130 G709A MT-RNR1 L3 - R F Hetero Reported
Mit133 T10454C MT-TR L1/L2 M Homo Reported
Mit135 T5655C MT-TA L1/L2 M Homo Reported
Mit137 A827G MT-RNR1 L3 - R F Homo Conflicting
Mit140 G709A MT-RNR1 L3 M Homo Reported
Mit144 A827G MT-RNR1 L3 - R M Homo Conflicting
Mit145 A827G MT-RNR1 L3 - R M Homo Conflicting
Mit149 G709A MT-RNR1 L3 M Homo Reported
Mit151 A827G MT-RNR1 L3 – T M Homo Reported
  1. aBased on the MITOMAP database; ‘Reported’ status indicates that one or more reports have considered the mutation as possibly pathologic. ‘Confirmed’ (bold) indicates that two or more independent studies had reported about the pathogenicity of specific mutation