Results for the protein: O14773

Results for the Protein: O14773

108936017

1200

TPP1

NCBI, UniProt

TPP1_HUMAN RecName: Full=Tripeptidyl-peptidase 1; Short=TPP-1; AltName: Full=Cell growth-inhibiting gene 1 protein; AltName: Full=Lysosomal pepstatin-insensitive protease; Short=LPIC; AltName: Full=Tripeptidyl aminopeptidase; AltName: Full=Tripeptidyl-peptidase I; Short=TPP-I; Flags: Precursor

Known Diseases associated with this Protein:
  CEROID LIPOFUSCINOSIS, NEURONAL, 2
  CEROID LIPOFUSCINOSIS, NEURONAL, 2 (CLN2)
  SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7

43

4

8

0

39

Tips:

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Default View: Pro-kuma_activ - pfam09286 Peptidases_S53 - cd04056	Swiss-Prot Protein: O14773 Identical to: NP_000382 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Pro-kuma_activ	pfam09286	6.9e-53	33	176

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_009611	Disease	p.ALA454GLU	Ceroid lipofuscinosis, neuronal, 2 (CLN2)
Swiss-Prot	VAR_066888	Disease	p.ALA448VAL	Ceroid lipofuscinosis, neuronal, 2 (CLN2)
Swiss-Prot	VAR_037573	Polymorphism	p.ARG185CYS	N/A
Swiss-Prot	VAR_009605	Disease	p.ARG206CYS	Ceroid lipofuscinosis, neuronal, 2 (CLN2)
Swiss-Prot	VAR_016790	Disease	p.ARG127GLN	Ceroid lipofuscinosis, neuronal, 2 (CLN2)
Swiss-Prot	VAR_066885	Disease	p.ARG266GLN	Ceroid lipofuscinosis, neuronal, 2 (CLN2)
Swiss-Prot	VAR_066886	Disease	p.ARG339GLN	Ceroid lipofuscinosis, neuronal, 2 (CLN2)
Swiss-Prot	VAR_005642	Polymorphism	p.ARG175HIS	N/A
Swiss-Prot	VAR_016792	Disease	p.ARG206HIS	Ceroid lipofuscinosis, neuronal, 2 (CLN2)
Swiss-Prot	VAR_005645	Disease	p.ARG447HIS	Ceroid lipofuscinosis, neuronal, 2 (CLN2)
Swiss-Prot	VAR_016796	Disease	p.ASN286SER	Ceroid lipofuscinosis, neuronal, 2 (CLN2)
Swiss-Prot	VAR_066890	Disease	p.ASN504TYR	Ceroid lipofuscinosis, neuronal, 2 (CLN2)
Swiss-Prot	VAR_005643	Disease	p.CYS365ARG	Ceroid lipofuscinosis, neuronal, 2 (CLN2)
Swiss-Prot	VAR_005644	Disease	p.CYS365TYR	Ceroid lipofuscinosis, neuronal, 2 (CLN2)
Swiss-Prot	VAR_009604	Polymorphism	p.GLN100ARG	N/A
Swiss-Prot	VAR_009610	Disease	p.GLN422HIS	Ceroid lipofuscinosis, neuronal, 2 (CLN2)
Swiss-Prot	VAR_016794	Disease	p.GLN278PRO	Ceroid lipofuscinosis, neuronal, 2 (CLN2)
Swiss-Prot	VAR_009607	Disease	p.GLU343LYS	Ceroid lipofuscinosis, neuronal, 2 (CLN2)
Swiss-Prot	VAR_016799	Disease	p.GLY473ARG	Ceroid lipofuscinosis, neuronal, 2 (CLN2)
Swiss-Prot	VAR_058435	Disease	p.GLY482ARG	Ceroid lipofuscinosis, neuronal, 2 (CLN2)
Swiss-Prot	VAR_009603	Disease	p.GLY77ARG	Ceroid lipofuscinosis, neuronal, 2 (CLN2)
Swiss-Prot	VAR_066889	Disease	p.GLY501CYS	Ceroid lipofuscinosis, neuronal, 2 (CLN2)
Swiss-Prot	VAR_009609	Disease	p.GLY389GLU	Ceroid lipofuscinosis, neuronal, 2 (CLN2)
Swiss-Prot	VAR_016795	Disease	p.GLY284VAL	Ceroid lipofuscinosis, neuronal, 2 (CLN2)
Swiss-Prot	VAR_009606	Disease	p.ILE287ASN	Ceroid lipofuscinosis, neuronal, 2 (CLN2)
Swiss-Prot	VAR_016798	Disease	p.LYS428ASN	Ceroid lipofuscinosis, neuronal, 2 (CLN2)
Swiss-Prot	VAR_016800	Disease	p.PHE481CYS	Ceroid lipofuscinosis, neuronal, 2 (CLN2)
Swiss-Prot	VAR_063640	Disease	p.PRO202LEU	Ceroid lipofuscinosis, neuronal, 2 (CLN2)
Swiss-Prot	VAR_063641	Disease	p.PRO544SER	Ceroid lipofuscinosis, neuronal, 2 (CLN2)
Swiss-Prot	VAR_066887	Disease	p.SER382ARG	Ceroid lipofuscinosis, neuronal, 2 (CLN2)
Swiss-Prot	VAR_009612	Disease	p.SER475LEU	Ceroid lipofuscinosis, neuronal, 2 (CLN2)
Swiss-Prot	VAR_037572	Polymorphism	p.SER62LEU	N/A
Swiss-Prot	VAR_016791	Disease	p.SER153PRO	Ceroid lipofuscinosis, neuronal, 2 (CLN2)
Swiss-Prot	VAR_066883	Disease	p.SER62THR	Ceroid lipofuscinosis, neuronal, 2 (CLN2)
Swiss-Prot	VAR_016797	Disease	p.THR353PRO	Ceroid lipofuscinosis, neuronal, 2 (CLN2)
Swiss-Prot	VAR_066891	Disease	p.TRP548ARG	Ceroid lipofuscinosis, neuronal, 2 (CLN2)
Swiss-Prot	VAR_066884	Disease	p.TYR209HIS	Ceroid lipofuscinosis, neuronal, 2 (CLN2)
Swiss-Prot	VAR_009608	Disease	p.VAL385ASP	Ceroid lipofuscinosis, neuronal, 2 (CLN2)
Swiss-Prot	VAR_016793	Disease	p.VAL277MET	Ceroid lipofuscinosis, neuronal, 2 (CLN2)
OMIM	607998.0006	Disease	p.ARG206CYS	CEROID LIPOFUSCINOSIS, NEURONAL, 2
OMIM	607998.0005	Disease	p.ARG447HIS	CEROID LIPOFUSCINOSIS, NEURONAL, 2
OMIM	607998.0003	Disease	p.ARG208TER	CEROID LIPOFUSCINOSIS, NEURONAL, 2
OMIM	607998.0008	Disease	p.ASN286SER	CEROID LIPOFUSCINOSIS, NEURONAL, 2
OMIM	607998.0001	Disease	p.CYS365ARG	CEROID LIPOFUSCINOSIS, NEURONAL, 2
OMIM	607998.0002	Disease	p.CYS365TYR	CEROID LIPOFUSCINOSIS, NEURONAL, 2
OMIM	607998.0007	Disease	p.GLY284VAL	CEROID LIPOFUSCINOSIS, NEURONAL, 2
OMIM	607998.0010	Disease	p.VAL466GLY	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7

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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