Variant position: 634 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 N---DLITEYNKQ-HKAELKPLRA DYLIARVVTVLEKLIKEFQDK
Mouse N---DLIEEHNKQ-HGAGLKPLRA DCLIARAVTVLEKLIDR
Baker's yeast QTWIDILNEERQQLHLDLLPAIKA EKLQALYMNNLEVILKQ
Fission yeast N---TLVDEWNKNSDNPRLEKFSF EKLLASVLNQFDRYHRL
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
A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency.
Tang N.L.S.; Hui J.; Yong C.K.K.; Wong L.T.K.; Applegarth D.A.; Vallance H.D.; Law L.K.; Fung S.L.M.; Mak T.W.L.; Sung Y.M.; Cheung K.L.; Fok T.F.;
Clin. Biochem. 36:145-149(2003)
Cited for: VARIANTS HLCS DEFICIENCY TRP-508; MET-550 AND ASN-634;
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