Results for the protein: Q8NFD5

Results for the Protein: Q8NFD5

73921720

57492

ARID1B

NCBI, UniProt

ARI1B_HUMAN RecName: Full=AT-rich interactive domain-containing protein 1B; Short=ARID domain-containing protein 1B; AltName: Full=BRG1-associated factor 250b; Short=BAF250B; AltName: Full=BRG1-binding protein hELD/OSA1; AltName: Full=Osa homolog 2; Short=hOsa2; AltName: Full=p250R

Known Diseases associated with this Protein:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12

6

25

6

0

25

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Default View: ARID - pfam01388 BRIGHT - smart00501 DUF3518 - pfam12031	Swiss-Prot Protein: Q8NFD5 Identical to: NP_059989 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
BRIGHT	smart00501	8.2e-43	1054	1145
DUF3518	pfam12031	1.5e-219	1926	2182

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_067670	Polymorphism	p.ALA363VAL	N/A
Swiss-Prot	VAR_067685	Polymorphism	p.ARG1506HIS	N/A
Swiss-Prot	VAR_067687	Polymorphism	p.ASN1659SER	N/A
Swiss-Prot	VAR_067690	Polymorphism	p.ASP1851ASN	N/A
Swiss-Prot	VAR_067693	Polymorphism	p.GLN2163ARG	N/A
Swiss-Prot	VAR_067676	Polymorphism	p.GLN876GLU	N/A
Swiss-Prot	VAR_067664	Polymorphism	p.GLN82HIS	N/A
Swiss-Prot	VAR_067677	Polymorphism	p.GLN980LEU	N/A
Swiss-Prot	VAR_067684	Polymorphism	p.GLN1466LYS	N/A
Swiss-Prot	VAR_067679	Polymorphism	p.GLN1249PRO	N/A
Swiss-Prot	VAR_067671	Polymorphism	p.GLY396ALA	N/A
Swiss-Prot	VAR_036257	Polymorphism	p.GLY814ALA	N/A
Swiss-Prot	VAR_067681	Polymorphism	p.GLY1303ARG	N/A
Swiss-Prot	VAR_067680	Polymorphism	p.GLY1271GLU	N/A
Swiss-Prot	VAR_067665	Polymorphism	p.GLY246SER	N/A
Swiss-Prot	VAR_067689	Polymorphism	p.LYS1773ARG	N/A
Swiss-Prot	VAR_067691	Polymorphism	p.LYS1898ARG	N/A
Swiss-Prot	VAR_067692	Polymorphism	p.LYS1954ARG	N/A
Swiss-Prot	VAR_067675	Polymorphism	p.MET531THR	N/A
Swiss-Prot	VAR_067672	Polymorphism	p.MET429VAL	N/A
Swiss-Prot	VAR_067683	Polymorphism	p.PRO1411SER	N/A
Swiss-Prot	VAR_067682	Polymorphism	p.SER1321ASN	N/A
Swiss-Prot	VAR_067674	Polymorphism	p.SER497ASN	N/A
Swiss-Prot	VAR_067686	Polymorphism	p.THR1573MET	N/A
Swiss-Prot	VAR_067678	Polymorphism	p.VAL1092ILE	N/A
OMIM	614556.0009	Disease	p.ARG1062TER	MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
OMIM	614556.0003	Disease	p.ARG1089TER	MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
OMIM	614556.0001	Disease	p.GLN1294TER	MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
OMIM	614556.0006	Disease	p.GLN622TER	MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
OMIM	614556.0008	Disease	p.LYS1764TER	MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
OMIM	614556.0005	Disease	p.TYR1333TER	MENTAL RETARDATION, AUTOSOMAL DOMINANT 12

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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