Results for the protein: P48449

Results for the Protein: P48449

1352387

4047

LSS

NCBI, UniProt

ERG7_HUMAN RecName: Full=Lanosterol synthase; AltName: Full=2,3-epoxysqualene--lanosterol cyclase; AltName: Full=Oxidosqualene--lanosterol cyclase; Short=OSC; Short=hOSC

			0 8 0 6 2

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Default View: ISOPREN_C2_like - cd00688 SQCY_1 - cd02892 SQCY - cd02889 Prenyltrans - pfam00432 SqhC - COG1657	Swiss-Prot Protein: P48449 Identical to: NP_001001438, NP_002331 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
SQCY	cd02889		77	719
SQCY_1	cd02892		77	719
SqhC	COG1657	5.5e-97	161	726
Prenyltrans	pfam00432	1.9e-12	122	165
Prenyltrans	pfam00432	3.7e-10	555	600
Prenyltrans	pfam00432	2.4e-08	610	658

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs61735801	Polymorphism	p.ALA251VAL	N/A
dbSNP	rs2839158	Polymorphism	p.ARG175GLN	N/A
dbSNP	rs61735802	Polymorphism	p.ARG622GLN	N/A
dbSNP	rs35785446	Polymorphism	p.ARG614TRP	N/A
Swiss-Prot	VAR_052057	Polymorphism	p.HIS310ARG	N/A
dbSNP	rs34115287	Polymorphism	p.HIS310LEU	N/A
dbSNP	rs2254524	Polymorphism	p.LEU642VAL	N/A
Swiss-Prot	VAR_052059	Polymorphism	p.PRO688LEU	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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