Variant position: 401 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 LHYKKGIYHHTGLRDPFNPF ELTNHAVLLVGYGTDSASGMD
Mouse LHYHSGIYHHTGLSDPFNPF ELTNHAVLLVGYGRDPVTGIE
Rat LHYHSGIYHHTGLSDPFNPF ELTNHAVLLVGYGKDPVTGLD
Bovine LHYRKGVYHHTGLRDPFNPF ELTNHAVLLVGYGTDAASGLD
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.
Novel point mutations, deletions, and polymorphisms in the cathepsin C gene in nine families from Europe and North Africa with Papillon-Lefevre syndrome.
Lefevre C.; Blanchet-Bardon C.; Jobard F.; Bouadjar B.; Stalder J.-F.; Cure S.; Hoffmann A.; Prud'Homme J.-F.; Fischer J.;
J. Invest. Dermatol. 117:1657-1661(2001)
Cited for: VARIANTS PLS PRO-127; PRO-272; CYS-339 AND CYS-429; VARIANTS THR-153 AND LYS-401;
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.