Results for the protein: Q08AH3

Results for the Protein: Q08AH3

257050995

123876

ACSM2A

NCBI, UniProt

ACS2A_HUMAN RecName: Full=Acyl-coenzyme A synthetase ACSM2A, mitochondrial; AltName: Full=Acyl-CoA synthetase medium-chain family member 2A; AltName: Full=Butyrate--CoA ligase 2A; AltName: Full=Butyryl-coenzyme A synthetase 2A; AltName: Full=Middle-chain acyl-CoA synthetase 2A; Flags: Precursor

			0 5 0 0 5

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Default View: EntE - COG1021 FAA1 - COG1022 Acs - COG0365 CaiC - COG0318 AMP-binding - pfam00501	Swiss-Prot Protein: Q08AH3 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Acs	COG0365	1.2e-130	37	576
FAA1	COG1022	4.5e-09	37	576
CaiC	COG0318	1.3e-95	53	576
AMP-binding	pfam00501	1.9e-99	82	493

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_035248	Polymorphism	p.ALA561THR	N/A
Swiss-Prot	VAR_035247	Polymorphism	p.SER513LEU	N/A
Swiss-Prot	VAR_058693	Polymorphism	p.THR336ALA	N/A
Swiss-Prot	VAR_058694	Polymorphism	p.VAL337GLY	N/A
Swiss-Prot	VAR_058692	Polymorphism	p.VAL335LEU	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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