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Results for the Protein: P31513
6166183

FMO3_HUMAN RecName: Full=Dimethylaniline monooxygenase [N-oxide-forming] 3; AltName: Full=Dimethylaniline oxidase 3; AltName: Full=FMO II; AltName: Full=FMO form 2; AltName: Full=Hepatic flavin-containing monooxygenase 3; Short=FMO 3; AltName: Full=Trimethylamine monooxygenase

Known Diseases associated with this Protein:
  FMO3 ACTIVITY, DECREASED
  TRIMETHYLAMINURIA
  TRIMETHYLAMINURIA (TMAU)
  TRIMETHYLAMINURIA, MILD
22
13
14
1
20
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Default View:

TrkA - COG2072
FMO-like - pfam00743
Pyr_redox_2 - pfam07992


Swiss-Prot Protein: P31513
Identical to: NP_001002294, NP_008825
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
TrkACOG20728.2e-201422
FMO-likepfam007432532
Pyr_redox_2pfam079920.000764337

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_008146Diseasep.ALA52THRTrimethylaminuria (TMAU)
Swiss-ProtVAR_018346Polymorphismp.ARG205CYSN/A
Swiss-ProtVAR_008147Diseasep.ARG387LEUTrimethylaminuria (TMAU)
Swiss-ProtVAR_008145Diseasep.ARG492TRPTrimethylaminuria (TMAU)
Swiss-ProtVAR_042706Polymorphismp.ASN61LYSN/A
Swiss-ProtVAR_037307Diseasep.ASN61SERTrimethylaminuria (TMAU)
Swiss-ProtVAR_018345Polymorphismp.ASP198GLUN/A
dbSNPrs12072582 Polymorphismp.ASP132HISN/A
Swiss-ProtVAR_042705Polymorphismp.GLU24ASPN/A
Swiss-ProtVAR_014846Polymorphismp.GLU362GLNN/A
Swiss-ProtVAR_002427Polymorphismp.GLU308GLYN/A
Swiss-ProtVAR_002425Polymorphismp.GLU158LYSN/A
Swiss-ProtVAR_037306Diseasep.GLU32LYSTrimethylaminuria (TMAU)
Swiss-ProtVAR_015366Polymorphismp.GLY503ARGN/A
Swiss-ProtVAR_015365Polymorphismp.LEU360PRON/A
Swiss-ProtVAR_042707Polymorphismp.LYS416ASNN/A
Swiss-ProtVAR_037308Diseasep.MET434ILETrimethylaminuria (TMAU)
Swiss-ProtVAR_002423Diseasep.MET66ILETrimethylaminuria (TMAU)
Swiss-ProtVAR_002424Diseasep.PRO153LEUTrimethylaminuria (TMAU)
Swiss-ProtVAR_014845Polymorphismp.VAL277ALAN/A
Swiss-ProtVAR_002426Polymorphismp.VAL257METN/A
OMIM136132.0008 Diseasep.ALA52THRTRIMETHYLAMINURIA
OMIM136132.0007 Diseasep.ARG387LEUTRIMETHYLAMINURIA
OMIM136132.0005 Diseasep.ARG492TRPTRIMETHYLAMINURIA
OMIM136132.0010 Diseasep.ASN61SERTRIMETHYLAMINURIA
OMIM136132.0015 Diseasep.GLU308GLYTRIMETHYLAMINURIA, MILD
OMIM136132.0015 Diseasep.GLU158LYSTRIMETHYLAMINURIA, MILD
OMIM136132.0013 Diseasep.GLU32LYSTRIMETHYLAMINURIA
OMIM136132.0001 Diseasep.GLU305TERTRIMETHYLAMINURIA
OMIM136132.0009 Diseasep.GLU314TERTRIMETHYLAMINURIA
OMIM136132.0006 Diseasep.GLY148TERFMO3 ACTIVITY, DECREASED
OMIM136132.0011 Diseasep.MET434ILETRIMETHYLAMINURIA
OMIM136132.0003 Diseasep.MET66ILETRIMETHYLAMINURIA
OMIM136132.0004 Diseasep.PRO153LEUTRIMETHYLAMINURIA
OMIM136132.0002 Diseasep.VAL257METTRIMETHYLAMINURIA



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