Results for the protein: P04156

Results for the Protein: P04156

130912

5621

PRNP

NCBI, UniProt

PRIO_HUMAN RecName: Full=Major prion protein; Short=PrP; AltName: Full=ASCR; AltName: Full=PrP27-30; AltName: Full=PrP33-35C; AltName: CD_antigen=CD230; Flags: Precursor

Known Diseases associated with this Protein:
  CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED
  CREUTZFELDT-JAKOB DISEASE
  CREUTZFELDT-JAKOB DISEASE (CJD)
  CREUTZFELDT-JAKOB DISEASE, INCLUDED
  FATAL FAMILIAL INSOMNIA
  FATAL FAMILIAL INSOMNIA (FFI)
  FATAL FAMILIAL INSOMNIA, INCLUDED
  GERSTMANN-STRAUSSLER DISEASE
  GERSTMANN-STRAUSSLER DISEASE (GSD)
  KURU, PROTECTION AGAINST
  RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
  SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES
  SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES, INCLUDED

45

8

28

1

24

Tips:

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Default View: Prion_bPrPp - pfam11587 PRP - smart00157	Swiss-Prot Protein: P04156 Identical to: NP_898902, NP_001073592, NP_000302, NP_001073590, NP_001073591 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PRP	smart00157	1.4e-158	23	240

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_006466	Polymorphism	p.ALA117VAL	N/A
Swiss-Prot	VAR_006474	Disease	p.ARG208HIS	Creutzfeldt-Jakob disease (CJD)
dbSNP	rs16990018	Polymorphism	p.ASN171SER	N/A
Swiss-Prot	VAR_006469	Disease	p.ASP178ASN	Fatal familial insomnia (FFI)
Swiss-Prot	VAR_008750	Disease	p.ASP202ASN	Gerstmann-Straussler disease (GSD)
Swiss-Prot	VAR_006476	Disease	p.GLN217ARG	Gerstmann-Straussler disease (GSD)
Swiss-Prot	VAR_008753	Disease	p.GLN212PRO	Gerstmann-Straussler disease (GSD)
Swiss-Prot	VAR_008752	Disease	p.GLU211GLN	Creutzfeldt-Jakob disease (CJD)
Swiss-Prot	VAR_008749	Disease	p.GLU196LYS	Creutzfeldt-Jakob disease (CJD)
Swiss-Prot	VAR_006473	Disease	p.GLU200LYS	Creutzfeldt-Jakob disease (CJD)
Swiss-Prot	VAR_006477	Polymorphism	p.GLU219LYS	N/A
Swiss-Prot	VAR_014264	Disease	p.GLY131VAL	Gerstmann-Straussler disease (GSD)
Swiss-Prot	VAR_008746	Disease	p.HIS187ARG	Gerstmann-Straussler disease (GSD)
Swiss-Prot	VAR_006478	Disease	p.MET232ARG	Creutzfeldt-Jakob disease (CJD)
Swiss-Prot	VAR_006467	Polymorphism	p.MET129VAL	N/A
Swiss-Prot	VAR_006472	Disease	p.PHE198SER	Gerstmann-Straussler disease (GSD)
Swiss-Prot	VAR_006464	Disease	p.PRO102LEU	Gerstmann-Straussler disease (GSD)
Swiss-Prot	VAR_006465	Disease	p.PRO105LEU	Gerstmann-Straussler disease (GSD)
Swiss-Prot	VAR_008754	Polymorphism	p.PRO238SER	N/A
Swiss-Prot	VAR_006471	Polymorphism	p.THR183ALA	N/A
Swiss-Prot	VAR_008747	Polymorphism	p.THR188ARG	N/A
Swiss-Prot	VAR_008748	Polymorphism	p.THR188LYS	N/A
Swiss-Prot	VAR_006470	Disease	p.VAL180ILE	Creutzfeldt-Jakob disease (CJD)
Swiss-Prot	VAR_008751	Disease	p.VAL203ILE	Creutzfeldt-Jakob disease (CJD)
Swiss-Prot	VAR_006475	Disease	p.VAL210ILE	Creutzfeldt-Jakob disease (CJD)
OMIM	176640.0004	Disease	p.ALA117VAL	GERSTMANN-STRAUSSLER DISEASE
OMIM	176640.0026	Disease	p.ALA133VAL	GERSTMANN-STRAUSSLER DISEASE
OMIM	176640.0023	Disease	p.ARG208HIS	CREUTZFELDT-JAKOB DISEASE
OMIM	176640.0018	Disease	p.ASN171SER	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
OMIM	176640.0007 176640.0010	Disease	p.ASP178ASN	FATAL FAMILIAL INSOMNIA\|\|CREUTZFELDT-JAKOB DISEASE, INCLUDED
OMIM	176640.0012	Disease	p.GLN217ARG	GERSTMANN-STRAUSSLER DISEASE
OMIM	176640.0032	Disease	p.GLN160TER	CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED
OMIM	176640.0034	Disease	p.GLN227TER	GERSTMANN-STRAUSSLER DISEASE
OMIM	176640.0029	Disease	p.GLU211ASP	GERSTMANN-STRAUSSLER DISEASE
OMIM	176640.0030	Disease	p.GLU211GLN	CREUTZFELDT-JAKOB DISEASE
OMIM	176640.0006	Disease	p.GLU200LYS	CREUTZFELDT-JAKOB DISEASE\|\|FATAL FAMILIAL INSOMNIA, INCLUDED
OMIM	176640.0019	Disease	p.GLU219LYS	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
OMIM	176640.0028	Disease	p.GLY127VAL	KURU, PROTECTION AGAINST
OMIM	176640.0021	Disease	p.GLY131VAL	GERSTMANN-STRAUSSLER DISEASE
OMIM	176640.0024	Disease	p.HIS187ARG	GERSTMANN-STRAUSSLER DISEASE\|\|SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES, INCLUDED
OMIM	176640.0017	Disease	p.MET232ARG	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
OMIM	176640.0005 176640.0007	Disease	p.MET129VAL	CREUTZFELDT-JAKOB DISEASE\|\|FATAL FAMILIAL INSOMNIA, INCLUDED
OMIM	176640.0011	Disease	p.PHE198SER	GERSTMANN-STRAUSSLER DISEASE
OMIM	176640.0002	Disease	p.PRO102LEU	GERSTMANN-STRAUSSLER DISEASE
OMIM	176640.0015	Disease	p.PRO105LEU	GERSTMANN-STRAUSSLER DISEASE
OMIM	176640.0027	Disease	p.PRO105SER	GERSTMANN-STRAUSSLER DISEASE
OMIM	176640.0025	Disease	p.PRO105THR	SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES
OMIM	176640.0022	Disease	p.THR183ALA	SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES
OMIM	176640.0031	Disease	p.TYR145TER	CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED
OMIM	176640.0035	Disease	p.TYR163TER	CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED
OMIM	176640.0033	Disease	p.TYR226TER	CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED
OMIM	176640.0016	Disease	p.VAL180ILE	CREUTZFELDT-JAKOB DISEASE
OMIM	176640.0014	Disease	p.VAL210ILE	CREUTZFELDT-JAKOB DISEASE

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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