Results for the protein: Q6NUN0

Results for the Protein: Q6NUN0

269849538

54988

ACSM5

NCBI, UniProt

ACSM5_HUMAN RecName: Full=Acyl-coenzyme A synthetase ACSM5, mitochondrial; AltName: Full=Acyl-CoA synthetase medium-chain family member 5; Flags: Precursor

			0 9 0 6 3

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Default View: EntE - COG1021 FAA1 - COG1022 Acs - COG0365 CaiC - COG0318 AMP-binding - pfam00501	Swiss-Prot Protein: Q6NUN0 Identical to: NP_060358 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
FAA1	COG1022	1.9e-10	44	574
Acs	COG0365	1.4e-151	46	579
CaiC	COG0318	2.7e-105	50	579
AMP-binding	pfam00501	1.6e-110	91	502

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs9928053	Polymorphism	p.ARG65GLN	N/A
dbSNP	rs12932087	Polymorphism	p.ARG341LYS	N/A
Swiss-Prot	VAR_035252	Polymorphism	p.GLN159HIS	N/A
dbSNP	rs7192210	Polymorphism	p.GLU182LYS	N/A
Swiss-Prot	VAR_035254	Polymorphism	p.HIS360ARG	N/A
dbSNP	rs73545426	Polymorphism	p.LEU282PHE	N/A
dbSNP	rs59025904	Polymorphism	p.MET217VAL	N/A
dbSNP	rs8062344	Polymorphism	p.PRO352ARG	N/A
Swiss-Prot	VAR_035255	Polymorphism	p.THR533MET	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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