Sequence information
Variant position: 368 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:
DLKEYVGYCSHWQLTQMFQR
F YPGQAPSLAENFAEHVLRAT
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 DLKEYVGYCSHWQLTQMFQRF YPGQAPSLAENFAEHVLRAT
Mouse DLKEYVGYCSHWQLTQMFQRF YPGQAPSLAENFAEHVLKAT
Bovine DMKEYVGHCSRWQLTQMFQRF YPGQATSLAENFADRVLQAT
Xenopus laevis DVKQYVGHCTNWQLSQMFLRF YPDQTAGQSEAFASAALSSS
Zebrafish DLKQYVGHCSHWQLTQMFRRF YPQESAAEADHFSEQALAAH
Baker's yeast DYKVFVGNATPYQVEKMFMKF YPGET-DICKKFVNSVKELD
Fission yeast DVKAYLGNATPEQVREMFTRF Y-GHSPEMADDLSDIVCPKN
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
Chain
2 – 419
Mitochondrial chaperone BCS1
Topological domain
33 – 419
Mitochondrial matrix
Literature citations
Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.
Fernandez-Vizarra E.; Bugiani M.; Goffrini P.; Carrara F.; Farina L.; Procopio E.; Donati A.; Uziel G.; Ferrero I.; Zeviani M.;
Hum. Mol. Genet. 16:1241-1252(2007)
Cited for: VARIANTS MC3DN1 CYS-73; CYS-183; CYS-184 AND ILE-368;
Disclaimer:
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.