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UniProtKB/Swiss-Prot P53634: Variant p.Arg272Pro

Dipeptidyl peptidase 1
Gene: CTSC
Variant information

Variant position:  272
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Arginine (R) to Proline (P) at position 272 (R272P, p.Arg272Pro).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from large size and basic (R) to medium size and hydrophobic (P)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In PLS.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

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:   QASCGSCYSFASMGMLEARI  R ILTNNSQTPILSPQEVVSCS
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                         QASCGSCYSFASMGMLEARIRILTNNSQTPILSPQEVVSCS

Mouse                         QESCGSCYSFASMGMLEARIRILTNNSQTPILSPQEVVSCS

Rat                           QESCGSCYSFASLGMLEARIRILTNNSQTPILSPQEVVSCS

Bovine                        QGSCGSCYSFASMGMMEARIRILTNNTQTPILSPQEVVSCS

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.

TypePositionsDescription
Chain 231 – 394 Dipeptidyl peptidase 1 heavy chain
Active site 258 – 258
Glycosylation 276 – 276 N-linked (GlcNAc...) asparagine
Disulfide bond 255 – 298
Alternative sequence 138 – 463 Missing. In isoform 2.
Alternative sequence 142 – 463 Missing. In isoform 3.
Helix 258 – 274


Literature citations

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;

Disclaimer: 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.