Variant position: 50 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 419 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 ALARKGVQLGLVAFRRHYMI TLEVPARDRSYAWLLSWLTRH
Mouse AMARKGAQLGLVAFRRHYMI TLEVPARDRSYAWLLSWLTRH
Bovine ALARKGAQLGLVAFRRHYMI TLEVPARDRSYAWLLSWLTRH
Xenopus laevis ALTRKGAQFGMIAFRRHYMI TLEVPSKDKSYQWLLSWISHY
Zebrafish AVARKGAQVGMIFFRRHYMI TLEVPSKDKSYHWLLSWITKH
Baker's yeast AVARSGIIKASRVLYRQMIV DLEIQSKDKSYAWFLTWMAKH
Fission yeast AILRRGLISGASLVKRRMLV SVEIPSKEKSYNAFLHWMSTV
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
2 – 419 Mitochondrial chaperone BCS1
33 – 419 Mitochondrial matrix
Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient.
Blazquez A.; Gil-Borlado M.C.; Moran M.; Verdu A.; Cazorla-Calleja M.R.; Martin M.A.; Arenas J.; Ugalde C.;
Neuromuscul. Disord. 19:143-146(2009)
Cited for: VARIANT MC3DN1 ALA-50;
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