Results for the protein: NP

Results for the Protein: NP_000388

6996021

1536

CYBB

NCBI

cytochrome b-245 heavy chain [Homo sapiens]

Known Diseases associated with this Protein:
  ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 2
  GRANULOMATOUS DISEASE, CHRONIC, X-LINKED
  GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT

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Tips:

The Domains on the Default View are decided by the Domain's E-Value.

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To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: Ferric_reduct - pfam01794 FAD_binding_8 - pfam08022 FNR_like - cd00322 NOX_Duox_like_FAD_NA - cd06186 FNR_like_3 - cd06198 NAD_binding_6 - pfam08030	RefSeq Protein: NP_000388 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
NOX_Duox_like_FAD_NA	cd06186	4.2e-75	297	570
FNR_like_3	cd06198	2.8e-06	298	566
Ferric_reduct	pfam01794	5.2e-32	54	220
FAD_binding_8	pfam08022	1.3e-22	292	395
NAD_binding_6	pfam08030	3.9e-63	401	551

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
OMIM	300481.0006	Disease	p.ALA156THR	GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT
OMIM	300481.0009	Disease	p.ARG226TER	GRANULOMATOUS DISEASE, CHRONIC, X-LINKED
OMIM	300481.0004	Disease	p.ARG73TER	GRANULOMATOUS DISEASE, CHRONIC, X-LINKED
OMIM	300481.0011	Disease	p.ASP500GLY	GRANULOMATOUS DISEASE, CHRONIC, X-LINKED
OMIM	300481.0005	Disease	p.CYS244SER	GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT
OMIM	300481.0022	Disease	p.GLU231PRO	ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 2
OMIM	300481.0002	Disease	p.GLY389ALA	GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT
OMIM	300481.0007	Disease	p.HIS101ARG	GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT
OMIM	300481.0016	Disease	p.HIS303ASN	GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT
OMIM	300481.0012	Disease	p.HIS101TYR	GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT
OMIM	300481.0003	Disease	p.HIS209TYR	GRANULOMATOUS DISEASE, CHRONIC, X-LINKED
OMIM	300481.0017	Disease	p.PRO304ARG	GRANULOMATOUS DISEASE, CHRONIC, X-LINKED
OMIM	300481.0001	Disease	p.PRO415HIS	GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT
OMIM	300481.0023	Disease	p.THR178PRO	ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 2

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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