Variant position: 139 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 NETMTGWVHDVLGRNWACFT GKKVGTASENVYVNIAHLKNS
Mouse HETMTGWVHDVLGRNWACFV GKKVESHIEKVNMNAAHLGGL
Rat HETMTGWVHDVLGRNWACFV GKKMANHSEKVYVNVAHLGGL
Bovine HETMTGWVHDVLGRNRACFT GRKTGNTSENVNVNTARLAGL
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
135 – 230
119 – 119 N-linked (GlcNAc...) asparagine
107 – 141 YKEEGSKVTTYCNETMTGWVHDVLGRNWACFTGKK -> DVTDFISHLFMQLGTVGIYDLPHLRNKLAMNRRWG. In isoform 3.
138 – 463 Missing. In isoform 2.
133 – 141
Biochemical and mutational analyses of the cathepsin c gene (CTSC) in three North American families with Papillon Lefevre syndrome.
Zhang Y.; Hart P.S.; Moretti A.J.; Bouwsma O.J.; Fisher E.M.; Dudlicek L.; Pettenati M.J.; Hart T.C.;
Hum. Mutat. 20:75-75(2002)
Cited for: VARIANTS PLS ARG-139 AND PRO-272; VARIANT THR-153;
The role of cathepsin C in Papillon-Lefevre syndrome, prepubertal periodontitis, and aggressive periodontitis.
Hewitt C.; McCormick D.; Linden G.; Turk D.; Stern I.; Wallace I.; Southern L.; Zhang L.; Howard R.; Bullon P.; Wong M.; Widmer R.; Gaffar K.A.; Awawdeh L.; Briggs J.; Yaghmai R.; Jabs E.W.; Hoeger P.; Bleck O.; Rudiger S.G.; Petersilka G.; Battino M.; Brett P.; Hattab F.; Al-Hamed M.; Sloan P.; Toomes C.; Dixon M.J.; James J.; Read A.P.; Thakker N.S.;
Hum. Mutat. 23:222-228(2004)
Cited for: VARIANTS PLS GLU-129; ARG-139; TYR-236; PHE-249; LEU-252; HIS-272; SER-301; ARG-312; CYS-339; CYS-347 AND GLY-447; VARIANTS AP1 HIS-272 AND CYS-412; VARIANT THR-153;
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.