Variant position: 291 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 IRILTNNSQTPILSPQEVVS CSQYAQGCEGGFPYLIAGKYA
Mouse IRILTNNSQTPILSPQEVVS CSPYAQGCDGGFPYLIAGKYA
Rat IRILTNNSQTPILSPQEVVS CSPYAQGCDGGFPYLIAGKYA
Bovine IRILTNNTQTPILSPQEVVS CSQYAQGCEGGFPYLIAGKYA
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.
Cathepsin C gene: first compound heterozygous patient with Papillon-Lefevre syndrome and a novel symptomless mutation.
Allende L.M.; Garcia-Perez M.A.; Moreno A.; Corell A.; Carasol M.; Martinez-Canut P.; Arnaiz-Villena A.;
Hum. Mutat. 17:152-153(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS PLS TYR-236; ARG-286 AND TYR-291; VARIANT THR-153;
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