UniProtKB/SwissProt variant VAR

Variant information

Variant position:

153

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

Type of variant:

LB/B

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 Isoleucine (I) to Threonine (T) at position 153 (I153T, p.Ile153Thr).

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 medium size and hydrophobic (I) to medium size and polar (T)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

-1

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

Other resources:

Links to websites of interest for the variant.

Variant rs217086 [ dbSNP | Ensembl ]

Sequence information

Variant position:

153

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:

NWACFTGKKVGTASENVYVN I AHLKNSQEKYSNRLYKYDHN

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                         NWACFTGKKVGTASENVYVNIAHLKNSQEKYSNRLYKYDHN

Mouse                         NWACFVGKKVESHIEKVNMNAAHLGGLQERYSERLYTHNHN

Rat                           NWACFVGKKMANHSEKVYVNVAHLGGLQEKYSERLYSHNHN

Bovine                        NRACFTGRKTGNTSENVNVNTARLAGLEETYSNRLYRYNHD

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
Propeptide	135 – 230
Alternative sequence	138 – 463	Missing. In isoform 2.
Alternative sequence	142 – 463	Missing. In isoform 3.

Literature citations

Molecular cloning and sequence analysis of human preprocathepsin C.
Paris A.; Strukelj B.; Pungercar J.; Renko M.; Dolenc I.; Turk V.;
FEBS Lett. 369:326-330(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT THR-153;

Human dipeptidyl-peptidase I. Gene characterization, localization, and expression.
Rao N.V.; Rao G.V.; Hoidal J.R.;
J. Biol. Chem. 272:10260-10265(1997)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; INDUCTION; TISSUE SPECIFICITY; VARIANT THR-153;

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;

A genetic study of cathepsin C gene in two families with Papillon-Lefevre syndrome.
Allende L.M.; Moreno A.; de Unamuno P.;
Mol. Genet. Metab. 79:146-148(2003)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS THR-153 AND PLS HIS-294;

Complete sequencing and characterization of 21,243 full-length human cDNAs.
Ota T.; Suzuki Y.; Nishikawa T.; Otsuki T.; Sugiyama T.; Irie R.; Wakamatsu A.; Hayashi K.; Sato H.; Nagai K.; Kimura K.; Makita H.; Sekine M.; Obayashi M.; Nishi T.; Shibahara T.; Tanaka T.; Ishii S.; Yamamoto J.; Saito K.; Kawai Y.; Isono Y.; Nakamura Y.; Nagahari K.; Murakami K.; Yasuda T.; Iwayanagi T.; Wagatsuma M.; Shiratori A.; Sudo H.; Hosoiri T.; Kaku Y.; Kodaira H.; Kondo H.; Sugawara M.; Takahashi M.; Kanda K.; Yokoi T.; Furuya T.; Kikkawa E.; Omura Y.; Abe K.; Kamihara K.; Katsuta N.; Sato K.; Tanikawa M.; Yamazaki M.; Ninomiya K.; Ishibashi T.; Yamashita H.; Murakawa K.; Fujimori K.; Tanai H.; Kimata M.; Watanabe M.; Hiraoka S.; Chiba Y.; Ishida S.; Ono Y.; Takiguchi S.; Watanabe S.; Yosida M.; Hotuta T.; Kusano J.; Kanehori K.; Takahashi-Fujii A.; Hara H.; Tanase T.-O.; Nomura Y.; Togiya S.; Komai F.; Hara R.; Takeuchi K.; Arita M.; Imose N.; Musashino K.; Yuuki H.; Oshima A.; Sasaki N.; Aotsuka S.; Yoshikawa Y.; Matsunawa H.; Ichihara T.; Shiohata N.; Sano S.; Moriya S.; Momiyama H.; Satoh N.; Takami S.; Terashima Y.; Suzuki O.; Nakagawa S.; Senoh A.; Mizoguchi H.; Goto Y.; Shimizu F.; Wakebe H.; Hishigaki H.; Watanabe T.; Sugiyama A.; Takemoto M.; Kawakami B.; Yamazaki M.; Watanabe K.; Kumagai A.; Itakura S.; Fukuzumi Y.; Fujimori Y.; Komiyama M.; Tashiro H.; Tanigami A.; Fujiwara T.; Ono T.; Yamada K.; Fujii Y.; Ozaki K.; Hirao M.; Ohmori Y.; Kawabata A.; Hikiji T.; Kobatake N.; Inagaki H.; Ikema Y.; Okamoto S.; Okitani R.; Kawakami T.; Noguchi S.; Itoh T.; Shigeta K.; Senba T.; Matsumura K.; Nakajima Y.; Mizuno T.; Morinaga M.; Sasaki M.; Togashi T.; Oyama M.; Hata H.; Watanabe M.; Komatsu T.; Mizushima-Sugano J.; Satoh T.; Shirai Y.; Takahashi Y.; Nakagawa K.; Okumura K.; Nagase T.; Nomura N.; Kikuchi H.; Masuho Y.; Yamashita R.; Nakai K.; Yada T.; Nakamura Y.; Ohara O.; Isogai T.; Sugano S.;
Nat. Genet. 36:40-45(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2); VARIANT THR-153;

Submission
Suzuki Y.; Sugano S.; Totoki Y.; Toyoda A.; Takeda T.; Sakaki Y.; Tanaka A.; Yokoyama S.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANT THR-153;

Submission
Mural R.J.; Istrail S.; Sutton G.G.; Florea L.; Halpern A.L.; Mobarry C.M.; Lippert R.; Walenz B.; Shatkay H.; Dew I.; Miller J.R.; Flanigan M.J.; Edwards N.J.; Bolanos R.; Fasulo D.; Halldorsson B.V.; Hannenhalli S.; Turner R.; Yooseph S.; Lu F.; Nusskern D.R.; Shue B.C.; Zheng X.H.; Zhong F.; Delcher A.L.; Huson D.H.; Kravitz S.A.; Mouchard L.; Reinert K.; Remington K.A.; Clark A.G.; Waterman M.S.; Eichler E.E.; Adams M.D.; Hunkapiller M.W.; Myers E.W.; Venter J.C.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT THR-153;

Purification and characterization of dipeptidyl peptidase I from human spleen.
McGuire M.J.; Lipsky P.E.; Thiele D.L.;
Arch. Biochem. Biophys. 295:280-288(1992)
Cited for: PROTEIN SEQUENCE OF 231-290; 310-328 AND 340-383; FUNCTION; ACTIVITY REGULATION; BIOPHYSICOCHEMICAL PROPERTIES; SUBUNIT; GLYCOSYLATION; VARIANT THR-153;

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;

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;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P53634: Variant p.Ile153Thr