Results for the protein: O75569

Results for the Protein: O75569

74735517

8575

PRKRA

NCBI, UniProt

PRKRA_HUMAN RecName: Full=Interferon-inducible double-stranded RNA-dependent protein kinase activator A; AltName: Full=PKR-associated protein X; AltName: Full=PKR-associating protein X; AltName: Full=Protein activator of the interferon-induced protein kinase; AltName: Full=Protein kinase, interferon-inducible double-stranded RNA-dependent activator

Known Diseases associated with this Protein:
DYSTONIA 16
DYSTONIA 16 (DYT16)

2

6

1

6

1

Tips:

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Default View: Rnc - COG0571 DSRM - cd00048 DSRM - smart00358 dsrm - pfam00035	Swiss-Prot Protein: O75569 Identical to: NP_003681 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
DSRM	cd00048	5.3e-22	34	99
DSRM	cd00048	2.4e-21	126	192
DSRM	cd00048	7.1e-06	240	306
dsrm	pfam00035	4.7e-20	35	99
dsrm	pfam00035	4.5e-15	127	192
DSRM	smart00358	7e-24	35	100
DSRM	smart00358	5.7e-17	127	193
DSRM	smart00358	1.8e-05	241	307

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs61999302	Polymorphism	p.ASP58GLY	N/A
dbSNP	rs77419724	Polymorphism	p.ILE226ASN	N/A
dbSNP	rs79211948	Polymorphism	p.ILE105THR	N/A
dbSNP	rs9406386	Polymorphism	p.MET1LEU	N/A
dbSNP	rs62176112	Polymorphism	p.PRO11LEU	N/A
dbSNP	rs75862065	Polymorphism	p.PRO127LEU	N/A
Swiss-Prot	VAR_046213	Disease	p.PRO222LEU	Dystonia 16 (DYT16)
OMIM	603424.0001	Disease	p.PRO222LEU	DYSTONIA 16

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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