Results for the protein: NP

Results for the Protein: NP_001171131

295054188

3026

HABP2

NCBI

hyaluronan-binding protein 2 isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  CAROTID STENOSIS, SUSCEPTIBILITY TO, INCLUDED;;
  FACTOR VII-ACTIVATING PROTEASE MARBURG I
  VENOUS THROMBOEMBOLISM, SUSCE

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1

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Default View: EGF_CA - smart00179 EGF - smart00181 KR - smart00130 Tryp_SPc - smart00020	RefSeq Protein: NP_001171131 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
EGF	smart00181	1.6e-06	50	83
EGF	smart00181	1.4e-05	127	162
KR	smart00130	1.9e-41	166	252
Tryp_SPc	smart00020	1.2e-99	287	524

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
OMIM	603924.0001	Disease	p.GLY508GLU	FACTOR VII-ACTIVATING PROTEASE MARBURG I\|\|CAROTID STENOSIS, SUSCEPTIBILITY TO, INCLUDED;;\|\|VENOUS THROMBOEMBOLISM, SUSCE

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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