Results for the protein: P00387

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
UbiB	COG0543	4.3e-31	37	297
NADH_quinone_reducta	cd06188	7.3e-06	38	301
Hmp	COG1018	4.7e-07	38	299
BenDO_FAD_NAD	cd06209	9.7e-11	42	300
MMO_FAD_NAD_binding	cd06210	4.5e-07	42	300
phenol_2-monooxygena	cd06211	4.1e-06	42	301
PA_degradation_oxido	cd06214	3.3e-12	42	300
FNR_iron_sulfur_bind	cd06217	2.1e-13	42	298
FNR_like_1	cd06196	3.9e-10	43	296
flavohem_like_fad_na	cd06184	4.3e-09	44	299
cyt_b5_reduct_like	cd06183	1.4e-148	45	301
flavin_oxioreductase	cd06189	6.4e-08	45	301
FNR_iron_sulfur_bind	cd06191	4.8e-09	45	298
FNR_iron_sulfur_bind	cd06215	6.2e-13	45	301
FNR1	cd06195	3.3e-06	46	298
NOX_Duox_like_FAD_NA	cd06186	1.1e-05	47	298
O2ase_reductase_like	cd06187	2.5e-08	47	301
T4MO_e_transfer_like	cd06190	9.5e-10	47	300
FNR_like	cd00322	3e-60	48	301
monooxygenase_like	cd06212	5.5e-07	51	300
FNR_like_3	cd06198	1.7e-06	55	300
sulfite_reductase_li	cd06221	6.6e-09	75	301
FAD_binding_6	pfam00970	1.1e-63	44	151
NAD_binding_1	pfam00175	6.7e-45	177	285

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_010752	Disease	p.ALA179VAL	Methemoglobinemia CYB5R3-related (METHB-CYB5R3)
Swiss-Prot	VAR_004619	Disease	p.ARG58GLN	Methemoglobinemia CYB5R3-related (METHB-CYB5R3)
Swiss-Prot	VAR_010753	Disease	p.CYS204ARG	Methemoglobinemia CYB5R3-related (METHB-CYB5R3)
Swiss-Prot	VAR_010754	Disease	p.CYS204TYR	Methemoglobinemia CYB5R3-related (METHB-CYB5R3)
Swiss-Prot	VAR_037316	Disease	p.GLY292ASP	Methemoglobinemia CYB5R3-related (METHB-CYB5R3)
Swiss-Prot	VAR_004622	Disease	p.LEU149PRO	Methemoglobinemia CYB5R3-related (METHB-CYB5R3)
Swiss-Prot	VAR_010750	Disease	p.LEU73PRO	Methemoglobinemia CYB5R3-related (METHB-CYB5R3)
Swiss-Prot	VAR_004621	Disease	p.SER128PRO	Methemoglobinemia CYB5R3-related (METHB-CYB5R3)
Swiss-Prot	VAR_018419	Polymorphism	p.SER66PRO	N/A
dbSNP	rs1800457	Polymorphism	p.THR117SER	N/A
Swiss-Prot	VAR_004620	Disease	p.VAL106MET	Methemoglobinemia CYB5R3-related (METHB-CYB5R3)
OMIM	613213.0002	Disease	p.ARG25GLN	METHEMOGLOBINEMIA, TYPE I
OMIM	613213.0015	Disease	p.ARG127TER	METHEMOGLOBINEMIA, TYPE II
OMIM	613213.0007	Disease	p.ARG186TER	METHEMOGLOBINEMIA, TYPE II
OMIM	613213.0019	Disease	p.ASP207GLY	METHEMOGLOBINEMIA, TYPE I
OMIM	613213.0008	Disease	p.CYS171ARG	METHEMOGLOBINEMIA, TYPE II
OMIM	613213.0016	Disease	p.CYS171TYR	METHEMOGLOBINEMIA, TYPE I
OMIM	613213.0014	Disease	p.GLN44TER	METHEMOGLOBINEMIA, TYPE II
OMIM	613213.0017	Disease	p.GLY259ASP	METHEMOGLOBINEMIA, TYPE I
OMIM	613213.0003	Disease	p.LEU116PRO	METHEMOGLOBINEMIA, TYPE I
OMIM	613213.0013	Disease	p.LEU40PRO	METHEMOGLOBINEMIA, TYPE I
OMIM	613213.0001	Disease	p.SER95PRO	METHEMOGLOBINEMIA, TYPE II
OMIM	613213.0004	Disease	p.VAL73MET	METHEMOGLOBINEMIA, TYPE I

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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