Results for the protein: P14136

Results for the Protein: P14136

121135

2670

GFAP

NCBI, UniProt

GFAP_HUMAN RecName: Full=Glial fibrillary acidic protein; Short=GFAP

Known Diseases associated with this Protein:
ALEXANDER DISEASE
ALEXANDER DISEASE (ALEXD)

27

2

13

1

15

Tips:

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Default View: Filament_head - pfam04732 Filament - pfam00038	Swiss-Prot Protein: P14136 Identical to: NP_002046 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Filament	pfam00038	1.2e-169	68	376

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_017473	Disease	p.ALA244VAL	Alexander disease (ALEXD)
Swiss-Prot	VAR_017471	Disease	p.ARG239CYS	Alexander disease (ALEXD)
Swiss-Prot	VAR_017467	Disease	p.ARG79CYS	Alexander disease (ALEXD)
Swiss-Prot	VAR_017469	Disease	p.ARG88CYS	Alexander disease (ALEXD)
Swiss-Prot	VAR_017472	Disease	p.ARG239HIS	Alexander disease (ALEXD)
Swiss-Prot	VAR_017468	Disease	p.ARG79HIS	Alexander disease (ALEXD)
Swiss-Prot	VAR_017474	Disease	p.ARG258PRO	Alexander disease (ALEXD)
Swiss-Prot	VAR_017470	Disease	p.ARG88SER	Alexander disease (ALEXD)
Swiss-Prot	VAR_017476	Disease	p.ARG416TRP	Alexander disease (ALEXD)
Swiss-Prot	VAR_017466	Disease	p.ASN77TYR	Alexander disease (ALEXD)
dbSNP	rs1126642	Polymorphism	p.ASP295ASN	N/A
Swiss-Prot	VAR_017477	Disease	p.ASP78GLU	Alexander disease (ALEXD)
Swiss-Prot	VAR_017475	Disease	p.GLU362ASP	Alexander disease (ALEXD)
Swiss-Prot	VAR_017478	Disease	p.GLU223GLN	Alexander disease (ALEXD)
Swiss-Prot	VAR_017465	Disease	p.LEU76PHE	Alexander disease (ALEXD)
Swiss-Prot	VAR_017464	Polymorphism	p.PRO47LEU	N/A
OMIM	137780.0001	Disease	p.ARG239CYS	ALEXANDER DISEASE
OMIM	137780.0005	Disease	p.ARG79CYS	ALEXANDER DISEASE
OMIM	137780.0006	Disease	p.ARG88CYS	ALEXANDER DISEASE
OMIM	137780.0002	Disease	p.ARG239HIS	ALEXANDER DISEASE
OMIM	137780.0004	Disease	p.ARG79HIS	ALEXANDER DISEASE
OMIM	137780.0011	Disease	p.ARG276LEU	ALEXANDER DISEASE
OMIM	137780.0007	Disease	p.ARG88SER	ALEXANDER DISEASE
OMIM	137780.0003	Disease	p.ARG1TRP	ALEXANDER DISEASE
OMIM	137780.0009	Disease	p.ASN77TYR	ALEXANDER DISEASE
OMIM	137780.0013	Disease	p.ASP78GLU	ALEXANDER DISEASE
OMIM	137780.0010	Disease	p.GLU362ASP	ALEXANDER DISEASE
OMIM	137780.0008	Disease	p.LEU76PHE	ALEXANDER DISEASE
OMIM	137780.0012	Disease	p.LEU352PRO	ALEXANDER DISEASE

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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