Results for the protein: Q9NZJ6

Results for the Protein: Q9NZJ6

313104241

51805

COQ3

NCBI, UniProt

COQ3_HUMAN RecName: Full=Hexaprenyldihydroxybenzoate methyltransferase, mitochondrial; AltName: Full=2-polyprenyl-6-hydroxyphenol methylase; AltName: Full=3,4-dihydroxy-5-hexaprenylbenzoate methyltransferase; Short=DHHB methyltransferase; Short=DHHB-MT; Short=DHHB-MTase; AltName: Full=3-demethylubiquinone-10 3-methyltransferase; AltName: Full=Dihydroxyhexaprenylbenzoate methyltransferase; Flags: Precursor

			0 3 0 3 0

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Default View: UbiG - COG2227 CMAS - pfam02353 SmtA - COG0500 UbiE - COG2226 AdoMet_MTases - cd02440 Methyltransf_12 - pfam08242 Methyltransf_11 - pfam08241	Swiss-Prot Protein: Q9NZJ6 Identical to: NP_059117 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
AdoMet_MTases	cd02440	1.1e-18	149	296
UbiG	COG2227	1.2e-75	81	334
CMAS	pfam02353	0.00082	88	355
UbiE	COG2226	1.3e-05	98	322
Methyltransf_11	pfam08241	2e-28	151	250
Methyltransf_12	pfam08242	6.8e-16	151	248

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs11548336	Polymorphism	p.LYS134GLU	N/A
dbSNP	rs6925344	Polymorphism	p.SER272GLY	N/A
dbSNP	rs4144164	Polymorphism	p.TYR329HIS	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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