Results for the protein: P10619

Results for the Protein: P10619

20178316

5476

CTSA

NCBI, UniProt

PPGB_HUMAN RecName: Full=Lysosomal protective protein; AltName: Full=Carboxypeptidase C; AltName: Full=Carboxypeptidase L; AltName: Full=Cathepsin A; AltName: Full=Protective protein cathepsin A; Short=PPCA; AltName: Full=Protective protein for beta-galactosidase; Contains: RecName: Full=Lysosomal protective protein 32 kDa chain; Contains: RecName: Full=Lysosomal protective protein 20 kDa chain; Flags: Precursor

Known Diseases associated with this Protein:
  GALACTOSIALIDOSIS
  GALACTOSIALIDOSIS (GSL)
  GALACTOSIALIDOSIS, EARLY INFANTILE
  GALACTOSIALIDOSIS, LATE INFANTILE

24

0

12

0

12

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Default View: COG2939 - COG2939 Peptidase_S10 - pfam00450	Swiss-Prot Protein: P10619 Identical to: NP_001121167 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Peptidase_S10	pfam00450	2.6e-201	39	477

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_001385	Disease	p.GLN49ARG	Galactosialidosis (GSL)
Swiss-Prot	VAR_063022	Disease	p.GLY439SER	Galactosialidosis (GSL)
Swiss-Prot	VAR_063020	Disease	p.LEU236PRO	Galactosialidosis (GSL)
Swiss-Prot	VAR_063023	Disease	p.LYS453GLU	Galactosialidosis (GSL)
Swiss-Prot	VAR_063021	Disease	p.MET406THR	Galactosialidosis (GSL)
Swiss-Prot	VAR_001390	Disease	p.PHE440VAL	Galactosialidosis (GSL)
Swiss-Prot	VAR_001387	Disease	p.SER90LEU	Galactosialidosis (GSL)
Swiss-Prot	VAR_063018	Disease	p.SER51TYR	Galactosialidosis (GSL)
Swiss-Prot	VAR_001386	Disease	p.TRP65ARG	Galactosialidosis (GSL)
Swiss-Prot	VAR_001388	Disease	p.TYR249ASN	Galactosialidosis (GSL)
Swiss-Prot	VAR_001389	Disease	p.TYR395CYS	Galactosialidosis (GSL)
Swiss-Prot	VAR_063019	Disease	p.VAL132MET	Galactosialidosis (GSL)
OMIM	613111.0003	Disease	p.GLN31ARG	GALACTOSIALIDOSIS
OMIM	613111.0011	Disease	p.GLY393SER	GALACTOSIALIDOSIS, EARLY INFANTILE
OMIM	613111.0010	Disease	p.LEU190PRO	GALACTOSIALIDOSIS, EARLY INFANTILE
OMIM	613111.0014	Disease	p.LYS435GLU	GALACTOSIALIDOSIS, LATE INFANTILE
OMIM	613111.0012	Disease	p.MET360THR	GALACTOSIALIDOSIS, LATE INFANTILE
OMIM	613111.0001	Disease	p.PHE394VAL	GALACTOSIALIDOSIS, LATE INFANTILE
OMIM	613111.0005	Disease	p.SER72LEU	GALACTOSIALIDOSIS
OMIM	613111.0004	Disease	p.TRP47ARG	GALACTOSIALIDOSIS
OMIM	613111.0008	Disease	p.TYR203ASN	GALACTOSIALIDOSIS, LATE INFANTILE
OMIM	613111.0007	Disease	p.TYR231ASN	GALACTOSIALIDOSIS
OMIM	613111.0006	Disease	p.TYR377CYS	GALACTOSIALIDOSIS
OMIM	613111.0009	Disease	p.VAL86MET	GALACTOSIALIDOSIS, EARLY INFANTILE

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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