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Results for the Protein: P00387
127846

NB5R3_HUMAN RecName: Full=NADH-cytochrome b5 reductase 3; Short=B5R; Short=Cytochrome b5 reductase; AltName: Full=Diaphorase-1; Contains: RecName: Full=NADH-cytochrome b5 reductase 3 membrane-bound form; Contains: RecName: Full=NADH-cytochrome b5 reductase 3 soluble form

Known Diseases associated with this Protein:
  METHEMOGLOBINEMIA CYB5R3-RELATED (METHB-CYB5R3)
  METHEMOGLOBINEMIA, TYPE I
  METHEMOGLOBINEMIA, TYPE II
21
2
12
1
10
Tips:
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Default View:

FNR_iron_sulfur_bind - cd06216
UbiB - COG0543
Hmp - COG1018
NADH_quinone_reducta - cd06188
FNR_iron_sulfur_bind - cd06217
PA_degradation_oxido - cd06214
phenol_2-monooxygena - cd06211
MMO_FAD_NAD_binding - cd06210
BenDO_FAD_NAD - cd06209
FNR_like_1 - cd06196
flavohem_like_fad_na - cd06184
FAD_binding_6 - pfam00970
FNR_iron_sulfur_bind - cd06215
flavin_oxioreductase - cd06189
FNR_iron_sulfur_bind - cd06191
cyt_b5_reduct_like - cd06183
FNR1 - cd06195
T4MO_e_transfer_like - cd06190
NOX_Duox_like_FAD_NA - cd06186
O2ase_reductase_like - cd06187
FNR_like - cd00322
monooxygenase_like - cd06212
FNR_like_3 - cd06198
sulfite_reductase_li - cd06221
NAD_binding_1 - pfam00175


Swiss-Prot Protein: P00387
Identical to: NP_000389
   Default View:


























Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
FNR_iron_sulfur_bindcd062163.6e-0822298
UbiBCOG05434.3e-3137297
NADH_quinone_reductacd061887.3e-0638301
HmpCOG10184.7e-0738299
BenDO_FAD_NADcd062099.7e-1142300
MMO_FAD_NAD_bindingcd062104.5e-0742300
phenol_2-monooxygenacd062114.1e-0642301
PA_degradation_oxidocd062143.3e-1242300
FNR_iron_sulfur_bindcd062172.1e-1342298
FNR_like_1cd061963.9e-1043296
flavohem_like_fad_nacd061844.3e-0944299
cyt_b5_reduct_likecd061831.4e-14845301
flavin_oxioreductasecd061896.4e-0845301
FNR_iron_sulfur_bindcd061914.8e-0945298
FNR_iron_sulfur_bindcd062156.2e-1345301
FNR1cd061953.3e-0646298
NOX_Duox_like_FAD_NAcd061861.1e-0547298
O2ase_reductase_likecd061872.5e-0847301
T4MO_e_transfer_likecd061909.5e-1047300
FNR_likecd003223e-6048301
monooxygenase_likecd062125.5e-0751300
FNR_like_3cd061981.7e-0655300
sulfite_reductase_licd062216.6e-0975301
FAD_binding_6pfam009701.1e-6344151
NAD_binding_1pfam001756.7e-45177285

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_010752Diseasep.ALA179VALMethemoglobinemia CYB5R3-related (METHB-CYB5R3)
Swiss-ProtVAR_004619Diseasep.ARG58GLNMethemoglobinemia CYB5R3-related (METHB-CYB5R3)
Swiss-ProtVAR_010753Diseasep.CYS204ARGMethemoglobinemia CYB5R3-related (METHB-CYB5R3)
Swiss-ProtVAR_010754Diseasep.CYS204TYRMethemoglobinemia CYB5R3-related (METHB-CYB5R3)
Swiss-ProtVAR_037316Diseasep.GLY292ASPMethemoglobinemia CYB5R3-related (METHB-CYB5R3)
Swiss-ProtVAR_004622Diseasep.LEU149PROMethemoglobinemia CYB5R3-related (METHB-CYB5R3)
Swiss-ProtVAR_010750Diseasep.LEU73PROMethemoglobinemia CYB5R3-related (METHB-CYB5R3)
Swiss-ProtVAR_004621Diseasep.SER128PROMethemoglobinemia CYB5R3-related (METHB-CYB5R3)
Swiss-ProtVAR_018419Polymorphismp.SER66PRON/A
dbSNPrs1800457 Polymorphismp.THR117SERN/A
Swiss-ProtVAR_004620Diseasep.VAL106METMethemoglobinemia CYB5R3-related (METHB-CYB5R3)
OMIM613213.0002 Diseasep.ARG25GLNMETHEMOGLOBINEMIA, TYPE I
OMIM613213.0015 Diseasep.ARG127TERMETHEMOGLOBINEMIA, TYPE II
OMIM613213.0007 Diseasep.ARG186TERMETHEMOGLOBINEMIA, TYPE II
OMIM613213.0019 Diseasep.ASP207GLYMETHEMOGLOBINEMIA, TYPE I
OMIM613213.0008 Diseasep.CYS171ARGMETHEMOGLOBINEMIA, TYPE II
OMIM613213.0016 Diseasep.CYS171TYRMETHEMOGLOBINEMIA, TYPE I
OMIM613213.0014 Diseasep.GLN44TERMETHEMOGLOBINEMIA, TYPE II
OMIM613213.0017 Diseasep.GLY259ASPMETHEMOGLOBINEMIA, TYPE I
OMIM613213.0003 Diseasep.LEU116PROMETHEMOGLOBINEMIA, TYPE I
OMIM613213.0013 Diseasep.LEU40PROMETHEMOGLOBINEMIA, TYPE I
OMIM613213.0001 Diseasep.SER95PROMETHEMOGLOBINEMIA, TYPE II
OMIM613213.0004 Diseasep.VAL73METMETHEMOGLOBINEMIA, TYPE I



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