Results for the protein: Q9NXL9

Results for the Protein: Q9NXL9

387912921

254394

MCM9

NCBI, UniProt

MCM9_HUMAN RecName: Full=DNA helicase MCM9; Short=hMCM9; AltName: Full=Mini-chromosome maintenance deficient domain-containing protein 1; AltName: Full=Minichromosome maintenance 9

			0 7 0 7 0

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Default View: MCM2 - COG1241 MCM - smart00350 MCM - pfam00493 COG0714 - COG0714 Mg_chelatase - pfam01078 AAA_5 - pfam07728	Swiss-Prot Protein: Q9NXL9 Identical to: NP_060166 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
COG0714	COG0714	0.001	313	643
MCM	pfam00493	1e-135	287	605
Mg_chelatase	pfam01078	0.00015	342	497
MCM	smart00350	7.4e-111	106	605
AAA_5	pfam07728	1.3e-05	347	483

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs284921	Polymorphism	p.CYS558SER	N/A
dbSNP	rs9387607	Polymorphism	p.GLU507ASP	N/A
dbSNP	rs65685	Polymorphism	p.MET887ARG	N/A
dbSNP	rs35917528	Polymorphism	p.PRO803LEU	N/A
dbSNP	rs3751444	Polymorphism	p.SER898PHE	N/A
dbSNP	rs34213490	Polymorphism	p.THR133ALA	N/A
dbSNP	rs79670608	Polymorphism	p.THR758ALA	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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