Variant position: 79 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 210 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 LLWTELFRGLGMTLSYLFRE PATINYPFEKGPLSPRFRGEH
Gorilla LLWTELFRGLGMTLSYLFRE PATINYPFEKGPLSPRFRGEH
Chimpanzee LLWTELFRGLGMTLSYLFRE PATINYPFEKGPLSPRFRGEH
Mouse LMWTELIRGLGMTLSYLFRE PATINYPFEKGPLSPRFRGEH
Bovine LLWTELIRGLGMTLSYLFRE PATINYPFEKGPLSPRFRGEH
Caenorhabditis elegans VFFTELFRGFGVMLGHVFME PATINYPFEKGPLSSRFRGEH
Drosophila MFFGELLRGFAVTLAHIFKE PATINYPFEKGPLSPRFRGEH
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
35 – 210 NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial
The first nuclear-encoded complex I mutation in a patient with Leigh syndrome.
Loeffen J.; Smeitink J.; Triepels R.; Smeets R.; Schuelke M.; Sengers R.; Trijbels F.; Hamel B.C.J.; Mullaart R.; van den Heuvel L.;
Am. J. Hum. Genet. 63:1598-1608(1998)
Cited for: INVOLVEMENT IN MC1DN2; VARIANTS MC1DN2 LEU-79 AND HIS-102;
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