Variant position: 78 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 RSYAWLLSWLTRHSTR-TQHL SVETSYL--------QHESGRISTK-FEFV
Mouse RSYAWLLSWLTRHSTR-TQHL SVETSYL--------QHESG
Bovine RSYAWLLSWLTRHSTR-TQHL SVETTYL--------QHESG
Xenopus laevis KSYQWLLSWISHYAKN-TQHL SVETSYL--------QHESG
Zebrafish KSYHWLLSWITKHAKH-TQHL SVETSYM--------QHESG
Baker's yeast KSYAWFLTWMAKHPQRVSRHL SVRTNYI--------QHDNG
Fission yeast KSYNAFLHWMSTVPKRYSNQL AVESNRQLKMPQNAREKPDK
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
GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L.
Visapaeae I.; Fellman V.; Vesa J.; Dasvarma A.; Hutton J.L.; Kumar V.; Payne G.S.; Makarow M.; Van Coster R.; Taylor R.W.; Turnbull D.M.; Suomalainen A.; Peltonen L.;
Am. J. Hum. Genet. 71:863-876(2002)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA]; VARIANTS GRACILE GLY-78; GLN-144 AND ALA-327;
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.