Variant position: 294 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 LTNNSQTPILSPQEVVSCSQ YAQGCEGGFPYLIAGKYAQDF
Mouse LTNNSQTPILSPQEVVSCSP YAQGCDGGFPYLIAGKYAQDF
Rat LTNNSQTPILSPQEVVSCSP YAQGCDGGFPYLIAGKYAQDF
Bovine LTNNTQTPILSPQEVVSCSQ YAQGCEGGFPYLIAGKYAQDF
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
231 – 394 Dipeptidyl peptidase 1 heavy chain
302 – 302 Chloride
304 – 304 Chloride; via amide nitrogen
276 – 276 N-linked (GlcNAc...) asparagine
255 – 298
291 – 331
138 – 463 Missing. In isoform 2.
142 – 463 Missing. In isoform 3.
A genetic study of cathepsin C gene in two families with Papillon-Lefevre syndrome.
Allende L.M.; Moreno A.; de Unamuno P.;
Mol. Genet. Metab. 79:146-148(2003)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS THR-153 AND PLS HIS-294;
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.