Results for the protein: Q12988

Results for the Protein: Q12988

6016270

8988

HSPB3

NCBI, UniProt

HSPB3_HUMAN RecName: Full=Heat shock protein beta-3; Short=HspB3; AltName: Full=Heat shock 17 kDa protein; Short=HSP 17; AltName: Full=Protein 3

Known Diseases associated with this Protein:
NEURONOPATHY, DISTAL HEREDITARY MOTOR, 2C (HMN2C)
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC

2

1

1

0

2

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: ACD_HspB8_like - cd06480 ACD_alphaA-crystalli - cd06497 ACD_HspB2_like - cd06476 metazoan_ACD - cd06526 HSP20 - pfam00011 ACD_HspB9_like - cd06481 ACD_sHsps-like - cd06464 ACD_IbpA-B_like - cd06470 ACD_HspB3_Like - cd06477 ACD_sHsps_p23-like - cd00298 ACD_alphaB-crystalli - cd06498 ACD_HspB1_like - cd06475 ACD_HspB4-5-6 - cd06478	Swiss-Prot Protein: Q12988 Identical to: NP_006299 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ACD_alphaA-crystalli	cd06497	3.1e-13	58	145
ACD_HspB2_like	cd06476	9.1e-22	62	145
ACD_sHsps-like	cd06464	7.1e-14	63	145
ACD_IbpA-B_like	cd06470	7.9e-05	63	145
ACD_HspB3_Like	cd06477	9.7e-59	63	145
ACD_HspB9_like	cd06481	0.00044	63	145
metazoan_ACD	cd06526	1e-32	63	145
ACD_sHsps_p23-like	cd00298	7.6e-08	64	145
ACD_HspB1_like	cd06475	5.7e-18	65	147
ACD_HspB4-5-6	cd06478	4.3e-21	65	145
ACD_alphaB-crystalli	cd06498	4.4e-12	65	146
HSP20	pfam00011	7.6e-11	63	150

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_063773	Disease	p.ARG7SER	Neuronopathy, distal hereditary motor, 2C (HMN2C)
Swiss-Prot	VAR_061271	Polymorphism	p.GLY67SER	N/A
OMIM	604624.0001	Disease	p.ARG7SER	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC

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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