Results for the protein: Q9C0J9

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Database Statistics

Results for the Protein: Q9C0J9

20137459

79365

BHLHE41

NCBI, UniProt

BHE41_HUMAN RecName: Full=Class E basic helix-loop-helix protein 41; Short=bHLHe41; AltName: Full=Class B basic helix-loop-helix protein 3; Short=bHLHb3; AltName: Full=Differentially expressed in chondrocytes protein 2; Short=hDEC2; AltName: Full=Enhancer-of-split and hairy-related protein 1; Short=SHARP-1

Known Diseases associated with this Protein:
SHORT SLEEPER

1

1

1

0

1

Tips:

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Default View: HLH - cd00083 HLH - pfam00010 HLH - smart00353 ORANGE - smart00511 Hairy_orange - pfam07527	Swiss-Prot Protein: Q9C0J9 Identical to: NP_110389 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
HLH	pfam00010	1.9e-13	45	100
HLH	smart00353	1.5e-12	50	105
Hairy_orange	pfam07527	1.8e-12	129	173
ORANGE	smart00511	4.2e-13	129	175

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_063259	Polymorphism	p.PRO384ARG	N/A
OMIM	606200.0001	Disease	p.PRO385ARG	SHORT SLEEPER

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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