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. Author manuscript; available in PMC: 2022 May 1.
Published in final edited form as: Mitochondrion. 2022 Mar 17;64:59–72. doi: 10.1016/j.mito.2022.03.001

Table 1.

Summary of the Pathogenicity of Clinical Mutants.

Clinical Mutation E. coli mutation dNADH activity of E. coli mutanta Defective Assembly observedb Pathogenicity by Mitomapc (Lott et al., 2013) Pathogenicity by ClinVard (Landrum et al., 2016)
ND5-I149S nuoL_L148S 83 ± 2% yes Reported
ND5-Y159H nuoL_Y158H 86 ± 3% yes Reported conflict
ND4-L158P nuoM_L183P 72 ± 7% yes Reported uncertain
ND4-I165T nuoM_L190T 85 ± 3% yes Reported benign
ND2-F60S nuoN_T160F 87 ± 3% yes Reported
ND2-L71P nuoN_L171P 73 ± 1% yes Reported pathogenic
ND4L-H25R nuoK_N27R 74 ± 10% no Reported
ND6-V112M nuoJ_I111M 72 ± 8% yes Reported likely benign
ND6-N117D nuoJ_G118D 2% yes Reported benign
ND3-S45P nuoA_G58P 65 ± 3% no Confirmed pathogenic
ND3-A47T nuoA_A60T 70 ± 7% no Confirmed pathogenic
ND3-I60T nuoA_M73T 88 ± 4% no Reported benign
ND3-D66N nuoA_D79N 52 ± 4% yes Reported pathogenic
a

Activities are calculated relative to the wild type plasmid, and are reported as mean ± standard deviation with 2–3 biological replicates and at least 3 technical replicates each.

b

Defective assembly includes a low yield of Complex I as seen in native gel electrophoresis, low yield in co-immunoprecipitation, or low yield in sub-complex formation.

c

Mitomap is found at https://www.mitomap.org.