Variant position: 405 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 463 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 KGIYHHTGLRDPFNPFELTN HAVLLVGYGTDSASGMDYWIV
Mouse SGIYHHTGLSDPFNPFELTN HAVLLVGYGRDPVTGIEYWII
Rat SGIYHHTGLSDPFNPFELTN HAVLLVGYGKDPVTGLDYWIV
Bovine KGVYHHTGLRDPFNPFELTN HAVLLVGYGTDAASGLDYWIV
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
395 – 463 Dipeptidyl peptidase 1 light chain
405 – 405
138 – 463 Missing. In isoform 2.
142 – 463 Missing. In isoform 3.
405 – 414
Loss-of-function mutations in cathepsin C in two families with Papillon-Lefevre syndrome are associated with deficiency of serine proteinases in PMNs.
de Haar S.F.; Jansen D.C.; Schoenmaker T.; De Vree H.; Everts V.; Beertsen W.;
Hum. Mutat. 23:524-524(2004)
Cited for: VARIANT PLS ASN-405;
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