Variant position: 300 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 TPILSPQEVVSCSQYAQGCE GGFPYLIAGKYAQDFGLVEEA
Mouse TPILSPQEVVSCSPYAQGCD GGFPYLIAGKYAQDFGVVEES
Rat TPILSPQEVVSCSPYAQGCD GGFPYLIAGKYAQDFGVVEEN
Bovine TPILSPQEVVSCSQYAQGCE GGFPYLIAGKYAQDFGLVEED
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
291 – 331
138 – 463 Missing. In isoform 2.
142 – 463 Missing. In isoform 3.
Evidence of a founder effect for four cathepsin C gene mutations in Papillon-Lefevre syndrome patients.
Zhang Y.; Lundgren T.; Renvert S.; Tatakis D.N.; Firatli E.; Uygur C.; Hart P.S.; Gorry M.C.; Marks J.J.; Hart T.C.;
J. Med. Genet. 38:96-101(2001)
Cited for: VARIANTS PLS PRO-272 AND ASP-300;
Proxy molecular diagnosis from whole-exome sequencing reveals Papillon-Lefevre syndrome caused by a missense mutation in CTSC.
Erzurumluoglu A.M.; Alsaadi M.M.; Rodriguez S.; Alotaibi T.S.; Guthrie P.A.; Lewis S.; Ginwalla A.; Gaunt T.R.; Alharbi K.K.; Alsaif F.M.; Alsaadi B.M.; Day I.N.;
PLoS ONE 10:E0121351-E0121351(2015)
Cited for: VARIANT PLS ASP-300;
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.