Variant position: 99 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 333 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human LPAES-RSSVFALRAFNVELA Q-VKDSVSEKTIGLMRMQFWKK
Mouse FPAEC-QRSASALRAFNVELA Q-VKDSVSEKTIGLMRMQFW
Rat FPAEC-QRSASALRAFNVELA Q-VKDSVSEKTIGLMRMQFW
Bovine LPAES-RSSAFALRAFNVELA Q-IKDSVSEKTIGLMRMQFW
Drosophila LPREL-RRAAFALRAFNVEVS RSVSGHQIEPQIAKMRLKFW
Slime mold ISDPIARRVAYAIRAFNIETV A-NDHSPKSEKISRLRLSFW
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
45 – 333 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
A mitochondrial protein compendium elucidates complex I disease biology.
Pagliarini D.J.; Calvo S.E.; Chang B.; Sheth S.A.; Vafai S.B.; Ong S.E.; Walford G.A.; Sugiana C.; Boneh A.; Chen W.K.; Hill D.E.; Vidal M.; Evans J.G.; Thorburn D.R.; Carr S.A.; Mootha V.K.;
Cited for: FUNCTION; VARIANT MC1DN17 ARG-99;
Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1.
McKenzie M.; Tucker E.J.; Compton A.G.; Lazarou M.; George C.; Thorburn D.R.; Ryan M.T.;
J. Mol. Biol. 414:413-426(2011)
Cited for: SUBCELLULAR LOCATION; FUNCTION; CHARACTERIZATION OF VARIANT MC1DN17 ARG-99;
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