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. 2015 Sep 7;24(22):6350–6360. doi: 10.1093/hmg/ddv344

Table 2.

Characterization of the 19 mis-sense mutations identified clinically in NDUFV1

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.