Variant position: 571 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 726 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 EAVRS-IPEYQDINLRVKWPN DIY-----------------------------YSDLMKIGGVLVNSTLMG
Mouse EAVRS-IPGYEDINLRVKWPN DIY-----------------
Baker's yeast KAILSYAPGFSDIPVRIKWPN DLYALSPTYYKRKNLKLVNT
Fission yeast RGIREYAPGYENIPAFIKWPN DVY-----------VRVDKG
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
1 – 726 Biotin--protein ligase
463 – 652 BPL/LPL catalytic
Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency.
Dupuis L.; Leon-Del-Rio A.; Leclerc D.; Campeau E.; Sweetman L.; Saudubray J.-M.; Herman G.; Gibson K.M.; Gravel R.A.;
Hum. Mol. Genet. 5:1011-1016(1996)
Cited for: VARIANTS HLCS DEFICIENCY ARG-216; ASP-363; TRP-508; GLU-518; MET-550 AND ASN-571;
Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency.
Aoki Y.; Li X.; Sakamoto O.; Hiratsuka M.; Akaishi H.; Xu L.; Briones P.; Suormala T.; Baumgartner E.R.; Suzuki Y.; Narisawa K.;
Hum. Genet. 104:143-148(1999)
Cited for: VARIANTS HLCS DEFICIENCY GLU-333; ILE-462; ASN-571; SER-581 AND THR-610 DEL;
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.