Results for the protein: P10636

Results for the Protein: P10636

334302961

4137

MAPT

NCBI, UniProt

TAU_HUMAN RecName: Full=Microtubule-associated protein tau; AltName: Full=Neurofibrillary tangle protein; AltName: Full=Paired helical filament-tau; Short=PHF-tau

Known Diseases associated with this Protein:
  FRONTOTEMPORAL DEMENTIA (FTD)
  PICK DISEASE OF THE BRAIN (PIDB)
  PROGRESSIVE SUPRANUCLEAR PALSY 1 (PSNP1)

17

13

0

7

23

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Default View: Tubulin-binding - pfam00418	Swiss-Prot Protein: P10636 Identical to: NP_058519 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Tubulin-binding	pfam00418	9.4e-18	592	622
Tubulin-binding	pfam00418	2.6e-16	623	653
Tubulin-binding	pfam00418	1.6e-16	654	685

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs63750612	Polymorphism	p.ALA495THR	N/A
Swiss-Prot	VAR_019660	Disease	p.ARG5HIS	Frontotemporal dementia (FTD)
Swiss-Prot	VAR_019661	Disease	p.ARG5LEU	Progressive supranuclear palsy 1 (PSNP1)
Swiss-Prot	VAR_056121	Polymorphism	p.ARG370TRP	N/A
Swiss-Prot	VAR_010353	Polymorphism	p.ARG723TRP	N/A
Swiss-Prot	VAR_019663	Disease	p.ASN613HIS	Frontotemporal dementia (FTD)
Swiss-Prot	VAR_010346	Disease	p.ASN596LYS	Frontotemporal dementia (FTD)
dbSNP	rs62063786	Polymorphism	p.ASP285ASN	N/A
dbSNP	rs63750072	Polymorphism	p.GLN230ARG	N/A
Swiss-Prot	VAR_019666	Disease	p.GLU659VAL	Frontotemporal dementia (FTD)
Swiss-Prot	VAR_010352	Disease	p.GLY706ARG	Pick disease of the brain (PIDB)
Swiss-Prot	VAR_010345	Disease	p.GLY589VAL	Frontotemporal dementia (FTD)
Swiss-Prot	VAR_037439	Disease	p.GLY620VAL	Progressive supranuclear palsy 1 (PSNP1)
Swiss-Prot	VAR_019662	Disease	p.LEU583VAL	Frontotemporal dementia (FTD)
Swiss-Prot	VAR_019668	Disease	p.LYS686ILE	Pick disease of the brain (PIDB)
Swiss-Prot	VAR_037440	Disease	p.LYS634MET	Frontotemporal dementia (FTD)
Swiss-Prot	VAR_010344	Disease	p.LYS574THR	Pick disease of the brain (PIDB)
dbSNP	rs63750417	Polymorphism	p.PRO202LEU	N/A
Swiss-Prot	VAR_010348	Disease	p.PRO618LEU	Frontotemporal dementia (FTD)
Swiss-Prot	VAR_010349	Disease	p.PRO618SER	Frontotemporal dementia (FTD)
Swiss-Prot	VAR_010350	Disease	p.SER622ASN	Frontotemporal dementia (FTD)
Swiss-Prot	VAR_019667	Polymorphism	p.SER669LEU	N/A
Swiss-Prot	VAR_019665	Disease	p.SER637PHE	Pick disease of the brain (PIDB)
dbSNP	rs10445337	Polymorphism	p.SER447PRO	N/A
Swiss-Prot	VAR_064623	Polymorphism	p.THR30ALA	N/A
Swiss-Prot	VAR_064622	Polymorphism	p.THR17MET	N/A
dbSNP	rs2258689	Polymorphism	p.TYR441HIS	N/A
dbSNP	rs62063787	Polymorphism	p.VAL289ALA	N/A
Swiss-Prot	VAR_064624	Polymorphism	p.VAL617ILE	N/A
Swiss-Prot	VAR_010351	Disease	p.VAL654MET	Frontotemporal dementia (FTD)

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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