Results for the protein: P37268

Results for the Protein: P37268

585126

2222

FDFT1

NCBI, UniProt

FDFT_HUMAN RecName: Full=Squalene synthase; Short=SQS; Short=SS; AltName: Full=FPP:FPP farnesyltransferase; AltName: Full=Farnesyl-diphosphate farnesyltransferase

			0 4 0 3 1

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Default View: ERG9 - COG1562 Trans_IPPS_HH - cd00683 SQS_PSY - pfam00494 Isoprenoid_Biosyn_C1 - cd00385 Trans_IPPS - cd00867	Swiss-Prot Protein: P37268 Identical to: NP_004453 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Trans_IPPS_HH	cd00683	1.4e-98	41	323
Isoprenoid_Biosyn_C1	cd00385	9.2e-24	53	298
Trans_IPPS	cd00867	9.7e-36	53	299
SQS_PSY	pfam00494	8.2e-48	47	320

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs61732866	Polymorphism	p.LEU104PHE	N/A
Swiss-Prot	VAR_011787	Polymorphism	p.LEU392PRO	N/A
dbSNP	rs11549147 rs4731	Polymorphism	p.LYS45ARG	N/A
dbSNP	rs61732865	Polymorphism	p.TYR105SER	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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