Results for the protein: P28799

Results for the Protein: P28799

77416865

2896

GRN

NCBI, UniProt

GRN_HUMAN RecName: Full=Granulins; AltName: Full=Proepithelin; Short=PEPI; Contains: RecName: Full=Acrogranin; AltName: Full=Glycoprotein of 88 Kda; AltName: Full=Progranulin; Contains: RecName: Full=Paragranulin; Contains: RecName: Full=Granulin-1; AltName: Full=Granulin G; Contains: RecName: Full=Granulin-2; AltName: Full=Granulin F; Contains: RecName: Full=Granulin-3; AltName: Full=Granulin B; Contains: RecName: Full=Granulin-4; AltName: Full=Granulin A; Contains: RecName: Full=Granulin-5; AltName: Full=Granulin C; Contains: RecName: Full=Granulin-6; AltName: Full=Granulin D; Contains: RecName: Full=Granulin-7; AltName: Full=Granulin E; Flags: Precursor

Known Diseases associated with this Protein:
FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS
UBIQUITIN-POSITIVE FRONTOTEMPORAL DEMENTIA (UP-FTD)

6

12

5

0

13

Tips:

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Default View: GRAN - smart00277 Granulin - pfam00396	Swiss-Prot Protein: P28799 Identical to: NP_002078 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Granulin	pfam00396	4.3e-19	138	180
Granulin	pfam00396	1.8e-23	220	262
Granulin	pfam00396	1.1e-25	295	337
Granulin	pfam00396	1.6e-23	377	418
Granulin	pfam00396	4.4e-22	455	497
Granulin	pfam00396	5.4e-20	532	574
GRAN	smart00277	3.6e-19	62	112
GRAN	smart00277	5.4e-28	128	178
GRAN	smart00277	3.2e-28	210	260
GRAN	smart00277	8.4e-30	285	335
GRAN	smart00277	7.4e-21	367	416
GRAN	smart00277	1.2e-27	445	495
GRAN	smart00277	2.3e-19	522	572

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_044451	Disease	p.ALA9ASP	Ubiquitin-positive frontotemporal dementia (UP-FTD)
Swiss-Prot	VAR_064627	Polymorphism	p.ALA69THR	N/A
Swiss-Prot	VAR_064635	Polymorphism	p.ARG433GLN	N/A
Swiss-Prot	VAR_064636	Polymorphism	p.ARG564HIS	N/A
Swiss-Prot	VAR_064625	Polymorphism	p.ARG19TRP	N/A
Swiss-Prot	VAR_064626	Polymorphism	p.ARG55TRP	N/A
Swiss-Prot	VAR_064633	Polymorphism	p.ASP376ASN	N/A
Swiss-Prot	VAR_064631	Polymorphism	p.CYS221SER	N/A
Swiss-Prot	VAR_014830	Polymorphism	p.GLY515ALA	N/A
Swiss-Prot	VAR_064632	Polymorphism	p.PRO275LEU	N/A
Swiss-Prot	VAR_064634	Polymorphism	p.SER398LEU	N/A
Swiss-Prot	VAR_064629	Polymorphism	p.SER120TYR	N/A
Swiss-Prot	VAR_064630	Polymorphism	p.THR182MET	N/A
OMIM	138945.0008	Disease	p.ALA9ASP	FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS
OMIM	138945.0009	Disease	p.ARG493TER	FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS
OMIM	138945.0002	Disease	p.GLN125TER	FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS
OMIM	138945.0004	Disease	p.MET1ILE	FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS
OMIM	138945.0003	Disease	p.MET1THR	FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS

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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