Results for the protein: P05305

Results for the Protein: P05305

119610

1906

EDN1

NCBI, UniProt

EDN1_HUMAN RecName: Full=Endothelin-1; AltName: Full=Preproendothelin-1; Short=PPET1; Contains: RecName: Full=Endothelin-1; Short=ET-1; Contains: RecName: Full=Big endothelin-1; Flags: Precursor

Known Diseases associated with this Protein:
7
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS

1

2

1

1

1

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Default View: Endothelin - pfam00322 END - smart00272	Swiss-Prot Protein: P05305 Identical to: NP_001946 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
END	smart00272	2.6e-12	52	73
END	smart00272	3.6e-10	108	129

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs5370	Polymorphism	p.LYS198ASN	N/A
Swiss-Prot	VAR_048933	Polymorphism	p.VAL186ILE	N/A
OMIM	131240.0001	Disease	p.LYS198ASN	HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS\|\|7

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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