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Results for the Protein: P10636
334302961

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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Tubulin-binding - pfam00418


Swiss-Prot Protein: P10636
Identical to: NP_058519
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Tubulin-bindingpfam004189.5e-16560591
Tubulin-bindingpfam004189.4e-18592622
Tubulin-bindingpfam004182.6e-16623653
Tubulin-bindingpfam004181.6e-16654685

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs63750612 Polymorphismp.ALA495THRN/A
Swiss-ProtVAR_019660Diseasep.ARG5HISFrontotemporal dementia (FTD)
Swiss-ProtVAR_019661Diseasep.ARG5LEUProgressive supranuclear palsy 1 (PSNP1)
Swiss-ProtVAR_056121Polymorphismp.ARG370TRPN/A
Swiss-ProtVAR_010353Polymorphismp.ARG723TRPN/A
Swiss-ProtVAR_019663Diseasep.ASN613HISFrontotemporal dementia (FTD)
Swiss-ProtVAR_010346Diseasep.ASN596LYSFrontotemporal dementia (FTD)
dbSNPrs62063786 Polymorphismp.ASP285ASNN/A
dbSNPrs63750072 Polymorphismp.GLN230ARGN/A
Swiss-ProtVAR_019666Diseasep.GLU659VALFrontotemporal dementia (FTD)
Swiss-ProtVAR_010352Diseasep.GLY706ARGPick disease of the brain (PIDB)
Swiss-ProtVAR_010345Diseasep.GLY589VALFrontotemporal dementia (FTD)
Swiss-ProtVAR_037439Diseasep.GLY620VALProgressive supranuclear palsy 1 (PSNP1)
Swiss-ProtVAR_019662Diseasep.LEU583VALFrontotemporal dementia (FTD)
Swiss-ProtVAR_019668Diseasep.LYS686ILEPick disease of the brain (PIDB)
Swiss-ProtVAR_037440Diseasep.LYS634METFrontotemporal dementia (FTD)
Swiss-ProtVAR_010344Diseasep.LYS574THRPick disease of the brain (PIDB)
dbSNPrs63750417 Polymorphismp.PRO202LEUN/A
Swiss-ProtVAR_010348Diseasep.PRO618LEUFrontotemporal dementia (FTD)
Swiss-ProtVAR_010349Diseasep.PRO618SERFrontotemporal dementia (FTD)
Swiss-ProtVAR_010350Diseasep.SER622ASNFrontotemporal dementia (FTD)
Swiss-ProtVAR_019667Polymorphismp.SER669LEUN/A
Swiss-ProtVAR_019665Diseasep.SER637PHEPick disease of the brain (PIDB)
dbSNPrs10445337 Polymorphismp.SER447PRON/A
Swiss-ProtVAR_064623Polymorphismp.THR30ALAN/A
Swiss-ProtVAR_064622Polymorphismp.THR17METN/A
dbSNPrs2258689 Polymorphismp.TYR441HISN/A
dbSNPrs62063787 Polymorphismp.VAL289ALAN/A
Swiss-ProtVAR_064624Polymorphismp.VAL617ILEN/A
Swiss-ProtVAR_010351Diseasep.VAL654METFrontotemporal dementia (FTD)



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