Results for the protein: P04839

Results for the Protein: P04839

115211

1536

CYBB

NCBI, UniProt

CY24B_HUMAN RecName: Full=Cytochrome b-245 heavy chain; AltName: Full=CGD91-phox; AltName: Full=Cytochrome b(558) subunit beta; Short=Cytochrome b558 subunit beta; AltName: Full=Heme-binding membrane glycoprotein gp91phox; AltName: Full=NADPH oxidase 2; AltName: Full=Neutrophil cytochrome b 91 kDa polypeptide; AltName: Full=Superoxide-generating NADPH oxidase heavy chain subunit; AltName: Full=gp91-1; AltName: Full=gp91-phox; AltName: Full=p22 phagocyte B-cytochrome

Known Diseases associated with this Protein:
GRANULOMATOUS DISEASE, CHRONIC, X-LINKED (CGD)
MYCOBACTERIOSIS ATYPICAL X-LINKED 2 (AMCBX2)

61

3

0

0

64

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Default View: FAD_binding_8 - pfam08022 NAD_binding_6 - pfam08030	Swiss-Prot Protein: P04839 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
NAD_binding_6	pfam08030	3.9e-63	401	551

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_068012	Disease	p.ALA488ASP	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_025615	Disease	p.ALA55ASP	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_008845	Disease	p.ALA57GLU	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_025617	Disease	p.ALA224GLY	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_002433	Disease	p.ALA156THR	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_025614	Disease	p.ARG54MET	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_007889	Disease	p.ARG356PRO	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_007874	Disease	p.ARG54SER	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_068013	Disease	p.ASP500GLU	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_025624	Polymorphism	p.ASP517GLU	N/A
Swiss-Prot	VAR_002441	Disease	p.ASP500GLY	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_007884	Disease	p.CYS244ARG	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_007898	Disease	p.CYS537ARG	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_007875	Disease	p.CYS59ARG	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_002436	Disease	p.CYS244SER	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_047266	Disease	p.CYS59TRP	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_002437	Disease	p.CYS244TYR	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_065366	Disease	p.GLN231PRO	Mycobacteriosis atypical X-linked 2 (AMCBX2)
Swiss-Prot	VAR_007885	Disease	p.GLU309LYS	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_002435	Disease	p.GLU225VAL	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_002439	Disease	p.GLY389ALA	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_047267	Disease	p.GLY179ARG	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_007873	Disease	p.GLY20ARG	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_025620	Polymorphism	p.GLY364ARG	N/A
Swiss-Prot	VAR_007892	Disease	p.GLY408ARG	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_007886	Disease	p.GLY322GLU	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_025621	Disease	p.GLY389GLU	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_007891	Disease	p.GLY408GLU	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_007883	Disease	p.GLY223LEU	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_047274	Polymorphism	p.GLY472SER	N/A
Swiss-Prot	VAR_002432	Disease	p.HIS101ARG	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_007877	Disease	p.HIS119ARG	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_025616	Disease	p.HIS209ARG	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_007881	Disease	p.HIS222ARG	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_007880	Disease	p.HIS222ASN	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_016880	Disease	p.HIS303ASN	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_007878	Disease	p.HIS209GLN	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_007876	Disease	p.HIS101TYR	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_002434	Disease	p.HIS209TYR	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_007882	Disease	p.HIS222TYR	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_025618	Disease	p.HIS338TYR	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_007887	Disease	p.ILE325PHE	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_047275	Disease	p.LEU505ARG	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_047273	Disease	p.LEU342GLN	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_025622	Disease	p.LEU420PRO	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_047276	Disease	p.LEU546PRO	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_007890	Disease	p.MET405ARG	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_047269	Disease	p.PHE205ILE	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_016881	Disease	p.PRO304ARG	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_002438	Disease	p.PRO339HIS	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_002440	Disease	p.PRO415HIS	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_007893	Disease	p.PRO415LEU	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_047268	Disease	p.SER193PHE	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_025619	Disease	p.SER344PHE	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_007888	Disease	p.SER333PRO	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_007894	Disease	p.SER422PRO	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_065365	Disease	p.THR178PRO	Mycobacteriosis atypical X-linked 2 (AMCBX2)
Swiss-Prot	VAR_047271	Disease	p.THR307PRO	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_007895	Disease	p.TRP453ARG	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_025623	Disease	p.TRP516ARG	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_047264	Disease	p.TRP18CYS	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_007896	Disease	p.TRP516CYS	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_025613	Disease	p.TYR41ASP	Granulomatous disease, chronic, X-linked (CGD)
Swiss-Prot	VAR_007897	Disease	p.VAL534ASP	Granulomatous disease, chronic, X-linked (CGD)

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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