Results for the protein: NP

Results for the Protein: NP_001190180

322303720

4137

MAPT

NCBI

microtubule-associated protein tau isoform 7 [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

18

1

18

1

0

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Default View: Tubulin-binding - pfam00418	RefSeq Protein: NP_001190180 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Tubulin-binding	pfam00418	2.6e-16	246	276
Tubulin-binding	pfam00418	1.6e-16	277	308

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs63750612	Polymorphism	p.ALA149THR	N/A
OMIM	157140.0017	Disease	p.ARG5HIS	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM
OMIM	157140.0019	Disease	p.ARG5LEU	SUPRANUCLEAR PALSY, PROGRESSIVE, 1
OMIM	157140.0003	Disease	p.ARG1TRP	DEMENTIA, FRONTOTEMPORAL
OMIM	157140.0013	Disease	p.ASN1ASN	DEMENTIA, FRONTOTEMPORAL
OMIM	157140.0009	Disease	p.ASN1LYS	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM
OMIM	157140.0014	Disease	p.GLU1VAL	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM
OMIM	157140.0011	Disease	p.GLY109ARG	PICK DISEASE
OMIM	157140.0002 157140.0025	Disease	p.GLY1VAL	SUPRANUCLEAR PALSY, PROGRESSIVE, 1
OMIM	157140.0022	Disease	p.LEU1VAL	DEMENTIA, FRONTOTEMPORAL
OMIM	157140.0016	Disease	p.LYS1ILE	PICK DISEASE
OMIM	157140.0024	Disease	p.LYS1MET	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM
OMIM	157140.0015	Disease	p.LYS1THR	PICK DISEASE
OMIM	157140.0001	Disease	p.PRO1LEU	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM\|\|SUPRANUCLEAR PALSY, PROGRESSIVE, 1, INCLUDED
OMIM	157140.0012	Disease	p.PRO1SER	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM
OMIM	157140.0010	Disease	p.SER1ASN	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM
OMIM	157140.0023	Disease	p.SER1LEU	SUPRANUCLEAR PALSY, PROGRESSIVE, 1
OMIM	157140.0018	Disease	p.SER1PHE	PICK DISEASE
OMIM	157140.0008	Disease	p.VAL1MET	DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM

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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