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Results for the Protein: NP_001116538
294862258

microtubule-associated protein tau isoform 6 [Homo sapiens]

Known Diseases associated with this Protein:
  DEMENTIA, FRONTOTEMPORAL
  DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM
  PICK DISEASE
  SUPRANUCLEAR PALSY, PROGRESSIVE, 1
  SUPRANUCLEAR PALSY, PROGRESSIVE, 1, INCLUDED
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7
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7
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Tubulin-binding - pfam00418




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Tubulin-bindingpfam004189.4e-18610640
Tubulin-bindingpfam004182.6e-16641671
Tubulin-bindingpfam004181.6e-16672703

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs63750612 Polymorphismp.ALA495THRN/A
dbSNPrs62063786 Polymorphismp.ASP285ASNN/A
dbSNPrs63750072 Polymorphismp.GLN230ARGN/A
dbSNPrs63750417 Polymorphismp.PRO202LEUN/A
dbSNPrs10445337 Polymorphismp.SER447PRON/A
dbSNPrs2258689 Polymorphismp.TYR441HISN/A
dbSNPrs62063787 Polymorphismp.VAL289ALAN/A
OMIM157140.0017 Diseasep.ARG5HISDEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM
OMIM157140.0019 Diseasep.ARG5LEUSUPRANUCLEAR PALSY, PROGRESSIVE, 1
OMIM157140.0003 Diseasep.ARG406TRPDEMENTIA, FRONTOTEMPORAL
OMIM157140.0013 Diseasep.ASN296ASNDEMENTIA, FRONTOTEMPORAL
OMIM157140.0009 Diseasep.ASN279LYSDEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM
OMIM157140.0014 Diseasep.GLU342VALDEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM
OMIM157140.0011 Diseasep.GLY389ARGPICK DISEASE
OMIM157140.0002 Diseasep.GLY272VALDEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM
OMIM157140.0025 Diseasep.GLY303VALSUPRANUCLEAR PALSY, PROGRESSIVE, 1
OMIM157140.0022 Diseasep.LEU266VALDEMENTIA, FRONTOTEMPORAL
OMIM157140.0016 Diseasep.LYS369ILEPICK DISEASE
OMIM157140.0024 Diseasep.LYS317METDEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM
OMIM157140.0015 Diseasep.LYS257THRPICK DISEASE
OMIM157140.0001 Diseasep.PRO301LEUDEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM||SUPRANUCLEAR PALSY, PROGRESSIVE, 1, INCLUDED
OMIM157140.0012 Diseasep.PRO301SERDEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM
OMIM157140.0010 Diseasep.SER305ASNDEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM
OMIM157140.0023 Diseasep.SER352LEUSUPRANUCLEAR PALSY, PROGRESSIVE, 1
OMIM157140.0018 Diseasep.SER320PHEPICK DISEASE
OMIM157140.0008 Diseasep.VAL337METDEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM



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