Results for the protein: P30084

Results for the Protein: P30084

62906863

1892

ECHS1

NCBI, UniProt

ECHM_HUMAN RecName: Full=Enoyl-CoA hydratase, mitochondrial; AltName: Full=Enoyl-CoA hydratase 1; AltName: Full=Short-chain enoyl-CoA hydratase; Short=SCEH; Flags: Precursor

			0 2 0 1 1

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Default View: MenB - COG0447 CaiD - COG1024 crotonase-like - cd06558 ECH - pfam00378	Swiss-Prot Protein: P30084 Identical to: NP_004083 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
CaiD	COG1024	1.4e-105	30	287
crotonase-like	cd06558	2.7e-79	36	229
ECH	pfam00378	4.1e-96	48	214

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs1049951	Polymorphism	p.THR75ILE	N/A
Swiss-Prot	VAR_022273	Polymorphism	p.VAL11ALA	N/A

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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