Results for the protein: P55265

Results for the Protein: P55265

313104303

103

ADAR

NCBI, UniProt

DSRAD_HUMAN RecName: Full=Double-stranded RNA-specific adenosine deaminase; Short=DRADA; AltName: Full=136 kDa double-stranded RNA-binding protein; Short=p136; AltName: Full=Interferon-inducible protein 4; Short=IFI-4; AltName: Full=K88DSRBP

Known Diseases associated with this Protein:
AICARDI-GOUTIERES SYNDROME 6 (AGS6)
DYSCHROMATOSIS SYMMETRICA HEREDITARIA (DSH)

12

4

0

0

16

Tips:

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Default View: Zalpha - smart00550 z-alpha - pfam02295 DSRM - cd00048 DSRM - smart00358 dsrm - pfam00035 ADEAMc - smart00552 A_deamin - pfam02137	Swiss-Prot Protein: P55265 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
DSRM	cd00048	2.7e-19	614	680
DSRM	cd00048	3.3e-18	726	792
z-alpha	pfam02295	5.3e-34	135	201
z-alpha	pfam02295	8.1e-33	295	359
dsrm	pfam00035	3.5e-17	504	569
dsrm	pfam00035	1.5e-13	615	680
dsrm	pfam00035	3.8e-14	727	792
A_deamin	pfam02137	1.2e-140	886	1217
Zalpha	smart00550	5.1e-31	134	201
Zalpha	smart00550	1.2e-31	293	359
DSRM	smart00358	1.2e-22	504	570
DSRM	smart00358	3.2e-19	615	681
DSRM	smart00358	1.1e-15	727	793
ADEAMc	smart00552	7e-210	839	1222

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_069536	Disease	p.ALA870THR	Aicardi-Goutieres syndrome 6 (AGS6)
Swiss-Prot	VAR_048725	Polymorphism	p.ARG100GLY	N/A
Swiss-Prot	VAR_069538	Disease	p.ARG892HIS	Aicardi-Goutieres syndrome 6 (AGS6)
Swiss-Prot	VAR_026669	Disease	p.ARG1155TRP	Dyschromatosis symmetrica hereditaria (DSH)
Swiss-Prot	VAR_069542	Disease	p.ASP1113HIS	Aicardi-Goutieres syndrome 6 (AGS6)
Swiss-Prot	VAR_021729	Disease	p.CYS966PHE	Dyschromatosis symmetrica hereditaria (DSH)
Swiss-Prot	VAR_035805	Polymorphism	p.GLU806VAL	N/A
Swiss-Prot	VAR_069540	Disease	p.GLY1007ARG	Aicardi-Goutieres syndrome 6 (AGS6)
Swiss-Prot	VAR_069537	Disease	p.ILE872THR	Aicardi-Goutieres syndrome 6 (AGS6)
Swiss-Prot	VAR_017604	Disease	p.LEU923PRO	Dyschromatosis symmetrica hereditaria (DSH)
Swiss-Prot	VAR_017240	Polymorphism	p.LYS384ARG	N/A
Swiss-Prot	VAR_069539	Disease	p.LYS999ASN	Aicardi-Goutieres syndrome 6 (AGS6)
Swiss-Prot	VAR_017605	Disease	p.PHE1165SER	Dyschromatosis symmetrica hereditaria (DSH)
Swiss-Prot	VAR_069535	Disease	p.PRO193ALA	Aicardi-Goutieres syndrome 6 (AGS6)
Swiss-Prot	VAR_024407	Polymorphism	p.TYR587CYS	N/A
Swiss-Prot	VAR_069541	Disease	p.TYR1112PHE	Aicardi-Goutieres syndrome 6 (AGS6)

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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