Table 2.
H. sapiens variant | 4UQ8. pdb (B. taurus)a | Y. lipolytica mutation | Effect in Y. lipolytica | Structure | Distance from flavinb | Distance from FeSb | Conservationc | Score |
---|---|---|---|---|---|---|---|---|
S56P | S36 | – | – | N-terminus | 23.7 | 38.3 | None | 0—none |
R88G | R68 | R87G | Complex I absent | N-terminus | 4.5 | 21.0 | All | 16—strongly impaired |
K111E | K91 | – | – | Rossmann fold | 16.7 | 25.1 | Metazoans | 6—mild |
A117T | A97 | A119T | Complex I absent | Rossmann fold | 7.0 | 19.8 | Metazoans | 12—impaired |
R147W | R127 | R149W | Normal | Rossmann fold | 16.7 | 31.9 | Chordates | 4—mild |
R199P | R179 | R201P | Normal | Rossmann fold | 14.5 | 21.1 | Eukaryotes | 10—mild |
Y204C | Y184 | Y206C | Complex I absent | Rossmann fold | 5.9 | 8.9 | All | 20—strongly impaired |
C206G | C186 | C208G | No flavin | Rossmann fold | 7.0 | 9.2 | All | 20—strongly impaired |
A211V | A191 | – | – | Rossmann fold | 8.5 | 8.5 | Metazoans | 16—strongly impaired |
E214K | E194 | E216K | Impaired | Rossmann fold | 12.5 | 12.0 | Eukaryotes | 14—impaired |
E246K | E226 | E248K | Complex I absent | Rossmann fold | 7.2 | 23.8 | All | 14—impaired |
P252R | P232 | P254R | Complex I absent | Rossmann fold | 13.3 | 31.5 | Eukaryotes | 10—mild |
R257Q | R237 | R259Q | Complex I absent | Rossmann fold | 19.9 | 38.5 | Eukaryotes | 8—mild |
A341V | A321 | A343V | Normal | Ubiquitin-like | 17.5 | 26.7 | Chordates | 4—none |
E377K | E357 | E379K | No flavin | FeS domain | 8.3 | 6.0 | All | 20—strongly impaired |
R386C | R366 | R388C | Impaired | FeS domain | 14.0 | 6.3 | All | 18—strongly impaired |
R386H | R366 | R388H | Impaired | FeS domain | 14.0 | 6.3 | All | 18—strongly impaired |
T423M | T403 | T425M | Complex I absent | FeS domain | 10.0 | 5.1 | Eukaryotes | 16—strongly impaired |
A432P | A412 | A434P | Impaired | FeS domain | 10.1 | 8.9 | Eukaryotes | 16—strongly impaired |
aResidues in the structure file are numbered from the beginning of the mature protein, so the mitochondrial target sequences are not included.
b(Center-to-center) distance from the Cα of the variant residue to the nearest atom in the cofactor.
cOverview of the level of conservation within chordates, metazoans, eukaryotes and all species. The category listed is the most general level in which the residue is conserved.