Variant position: 272 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 QASCGSCYSFASMGMLEARI RILTNNSQTPILSPQEVVSCS
Mouse QESCGSCYSFASMGMLEARI RILTNNSQTPILSPQEVVSCS
Rat QESCGSCYSFASLGMLEARI RILTNNSQTPILSPQEVVSCS
Bovine QGSCGSCYSFASMGMMEARI RILTNNTQTPILSPQEVVSCS
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.
Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis.
Toomes C.; James J.; Wood A.J.; Wu C.L.; McCormick D.; Lench N.; Hewitt C.; Moynihan L.; Roberts E.; Woods C.G.; Markham A.; Wong M.; Widmer R.; Ghaffar K.A.; Pemberton M.; Hussein I.R.; Temtamy S.A.; Davies R.; Read A.P.; Sloan P.; Dixon M.J.; Thakker N.S.;
Nat. Genet. 23:421-424(1999)
Cited for: VARIANTS PLS PHE-249; LEU-252; PRO-272; SER-301; CYS-339 AND CYS-347;
Identification of cathepsin C mutations in ethnically diverse Papillon-Lefevre syndrome patients.
Hart P.S.; Zhang Y.; Firatli E.; Uygur C.; Lotfazar M.; Michalec M.D.; Marks J.J.; Lu X.; Coates B.J.; Seow W.K.; Marshall R.; Williams D.; Reed J.B.; Wright J.T.; Hart T.C.;
J. Med. Genet. 37:927-932(2000)
Cited for: VARIANTS PLS 67-TYR--ALA-74 DEL; PRO-272; SER-300; VAL-301; SER-301; ASN-304; GLY-319; CYS-339; CYS-340 AND GLY-447; VARIANT THR-153;
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;
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;
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;
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