Variant position: 301 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 LEDVDAAFLSRD-LAVENPVK YQGLGRLTFSGLLNALDGVAS
Mouse LEDVDAAFLSRD-LAVENPIK YQGLGRLTFSGLLNALDGVA
Bovine LEDVDAAFLSRD-LAAENPIK YQGLGRLTFSGLLNALDGVA
Xenopus laevis LEDVDAAFVSRD-LNKQNPTA YQGMGRLTFSGLLNALDGVA
Zebrafish LEDVDAAFVSRELLPTENPLA YQGMGRLTFSGLLNALDGVA
Baker's yeast LEDIDAAFNKRS---QTGEQG FH--SSVTFSGLLNALDGVT
Fission yeast LEDVDSAFQGRE---RSGEVG FH--ANVTFSGLLNALDGVT
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
Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.
Siddiqi S.; Siddiq S.; Mansoor A.; Oostrik J.; Ahmad N.; Kazmi S.A.; Kremer H.; Qamar R.; Schraders M.;
J. Hum. Genet. 58:819-821(2013)
Cited for: VARIANT BJS ASN-301;
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