Variant position: 253 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 327 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 TNQMYSYFMFTRGGPYWQEV KIPFSKFFFSNRGRIRDVQHE
Gorilla TNQMYSYFMFTRGGPYWQEV KIPFSKFFFSNRGRIRDVQHE
Chimpanzee TNQMYSYFMFTRGGPYWQEV KIPFSKFFFSNRGRIRDVQHE
Mouse KNQMYSYFMFTRGGPYWQEV KIPFSKFFFSNQGRVRDVQGP
Caenorhabditis elegans WGDSFSHPLHTHGGPYWQYE KIPFSKFFHTVAGRIQDRQYR
Drosophila WNDIYHYVLYTRGGPHWQIA KIPFSKFFLSSKGRVQDRQGA
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
25 – 327 Complex I intermediate-associated protein 30, mitochondrial
Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease.
Dunning C.J.; McKenzie M.; Sugiana C.; Lazarou M.; Silke J.; Connelly A.; Fletcher J.M.; Kirby D.M.; Thorburn D.R.; Ryan M.T.;
EMBO J. 26:3227-3237(2007)
Cited for: FUNCTION; SUBCELLULAR LOCATION; SUBUNIT; INVOLVEMENT IN MC1DN11; VARIANTS MC1DN11 PRO-207; 252-VAL-LYS-253 DEL AND ARG-253;
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