Results for the protein: P19878

Results for the Protein: P19878

1346669

4688

NCF2

NCBI, UniProt

NCF2_HUMAN RecName: Full=Neutrophil cytosol factor 2; Short=NCF-2; AltName: Full=67 kDa neutrophil oxidase factor; AltName: Full=NADPH oxidase activator 2; AltName: Full=Neutrophil NADPH oxidase factor 2; AltName: Full=p67-phox

Known Diseases associated with this Protein:
  GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE,
  GRANULOMATOUS DISEASE, CHRONIC, CYTOCHROME-B-POSITIVE 2, AUTOSOMAL RECESSIVE (CGD2)
  TYPE II

21

8

6

5

18

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Default View: TPR_2 - pfam07719 TPR - smart00028 SH3 - smart00326 SH3_2 - pfam07653 PB1 - smart00666	Swiss-Prot Protein: P19878 Identical to: NP_001121123, NP_000424 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
TPR	smart00028	2.6e-06	71	104
SH3	smart00326	2.2e-14	241	297
SH3_2	pfam07653	0.00046	244	296
PB1	smart00666	1.7e-11	351	427
SH3	smart00326	2.4e-21	458	514
SH3_2	pfam07653	8.1e-07	461	513

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_065012	Disease	p.ALA140ASP	Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2)
Swiss-Prot	VAR_017389	Disease	p.ALA128VAL	Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2)
Swiss-Prot	VAR_065016	Disease	p.ALA202VAL	Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2)
Swiss-Prot	VAR_017388	Disease	p.ARG77GLN	Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2)
Swiss-Prot	VAR_018478	Polymorphism	p.ARG328LYS	N/A
Swiss-Prot	VAR_065009	Disease	p.ARG102PRO	Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2)
Swiss-Prot	VAR_065014	Disease	p.ARG184PRO	Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2)
dbSNP	rs13306575	Polymorphism	p.ARG395TRP	N/A
Swiss-Prot	VAR_052621	Disease	p.ASN419ILE	Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2)
Swiss-Prot	VAR_065002	Disease	p.ASN42SER	Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2)
Swiss-Prot	VAR_065007	Disease	p.ASP93GLU	Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2)
Swiss-Prot	VAR_065010	Disease	p.ASP108VAL	Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2)
Swiss-Prot	VAR_065013	Disease	p.GLN169GLU	Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2)
Swiss-Prot	VAR_065017	Polymorphism	p.GLY369ARG	N/A
Swiss-Prot	VAR_065004	Disease	p.GLY44ARG	Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2)
Swiss-Prot	VAR_065003	Disease	p.GLY44CYS	Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2)
Swiss-Prot	VAR_008904	Disease	p.GLY78GLU	Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2)
dbSNP	rs17849502	Polymorphism	p.HIS389GLN	N/A
dbSNP	rs2274064	Polymorphism	p.LYS181ARG	N/A
Swiss-Prot	VAR_065006	Polymorphism	p.MET79VAL	N/A
dbSNP	rs13306581	Polymorphism	p.THR279MET	N/A
Swiss-Prot	VAR_065011	Disease	p.TRP137ARG	Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2)
dbSNP	rs35937854	Polymorphism	p.VAL297ALA	N/A
OMIM	608515.0007	Disease	p.ALA128VAL	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE,\|\|TYPE II
OMIM	608515.0008	Disease	p.ARG77GLN	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE,\|\|TYPE II
OMIM	608515.0010	Disease	p.ARG395TRP	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE,\|\|TYPE II
OMIM	608515.0002	Disease	p.ASP161VAL	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE,\|\|TYPE II
OMIM	608515.0009	Disease	p.GLN100TER	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE,\|\|TYPE II
OMIM	608515.0002	Disease	p.LYS160GLU	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE,\|\|TYPE II

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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