Results for the protein: Q5FVE4

Results for the Protein: Q5FVE4

296434386

81616

ACSBG2

NCBI, UniProt

ACBG2_HUMAN RecName: Full=Long-chain-fatty-acid--CoA ligase ACSBG2; AltName: Full=Acyl-CoA synthetase bubblegum family member 2; AltName: Full=Bubblegum-related protein; AltName: Full=PRTD-NY3

			0 8 0 7 1

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Default View: FAA1 - COG1022 CaiC - COG0318 Acs - COG0365 AMP-binding - pfam00501	Swiss-Prot Protein: Q5FVE4 Identical to: NP_112186 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
CaiC	COG0318	3.4e-26	41	630
Acs	COG0365	5.7e-05	42	594
AMP-binding	pfam00501	1.6e-60	82	545

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs17856650	Polymorphism	p.ARG624LYS	N/A
Swiss-Prot	VAR_038324	Polymorphism	p.ARG650SER	N/A
dbSNP	rs17856651	Polymorphism	p.GLU626GLN	N/A
dbSNP	rs17851959	Polymorphism	p.GLY584ASP	N/A
dbSNP	rs17851960	Polymorphism	p.GLY586ASP	N/A
dbSNP	rs33937754	Polymorphism	p.LYS152ARG	N/A
dbSNP	rs35609668	Polymorphism	p.PRO601ARG	N/A
dbSNP	rs4807840	Polymorphism	p.VAL143ALA	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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