Variant position: 353 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 HVDRLDPALIRPGRVDLKEY VGYCSHWQLTQMFQRFYPGQA
Mouse YIDRLDPALIRPGRVDLKEY VGYCSHWQLTQMFQRFYPGQA
Bovine HIDRLDPALIRPGRVDMKEY VGHCSRWQLTQMFQRFYPGQA
Xenopus laevis HIDRLDPALIRPGRVDVKQY VGHCTNWQLSQMFLRFYPDQT
Zebrafish FIERLDPALVRPGRVDLKQY VGHCSHWQLTQMFRRFYPQES
Baker's yeast HPEKLDAAIMRPGRIDYKVF VGNATPYQVEKMFMKFYPGET
Fission yeast HPEKLDPALVRPGRVDVKAY LGNATPEQVREMFTRFY-GHS
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
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.
de Lonlay P.; Valnot I.; Barrientos A.; Gorbatyuk M.; Tzagoloff A.; Taanman J.-W.; Benayoun E.; Chretien D.; Kadhom N.; Lombes A.; Ogier de Baulny H.; Niaudet P.; Munnich A.; Rustin P.; Roetig A.;
Nat. Genet. 29:57-60(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS MC3DN1 LEU-99; PRO-155; ASN-277 AND MET-353;
Missense mutations in the BCS1L gene as a cause of the Bjoernstad syndrome.
Hinson J.T.; Fantin V.R.; Schoenberger J.; Breivik N.; Siem G.; McDonough B.; Sharma P.; Keogh I.; Godinho R.; Santos F.; Esparza A.; Nicolau Y.; Selvaag E.; Cohen B.H.; Hoppel C.L.; Tranebjaerg L.; Eavey R.D.; Seidman J.G.; Seidman C.E.;
N. Engl. J. Med. 356:809-819(2007)
Cited for: VARIANTS BJS ARG-35; TRP-114; HIS-183; CYS-184; GLU-302 AND HIS-306; VARIANTS MC3DN1 LEU-99; PRO-155; ASN-277 AND MET-353; VARIANTS GRACILE GLY-78; GLN-144 AND ALA-327;
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.