Results for the protein: P31513

Results for the Protein: P31513

6166183

2328

FMO3

NCBI, UniProt

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 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
FMO-like	pfam00743		2	532
Pyr_redox_2	pfam07992	0.00076	4	337

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_008146	Disease	p.ALA52THR	Trimethylaminuria (TMAU)
Swiss-Prot	VAR_018346	Polymorphism	p.ARG205CYS	N/A
Swiss-Prot	VAR_008147	Disease	p.ARG387LEU	Trimethylaminuria (TMAU)
Swiss-Prot	VAR_008145	Disease	p.ARG492TRP	Trimethylaminuria (TMAU)
Swiss-Prot	VAR_042706	Polymorphism	p.ASN61LYS	N/A
Swiss-Prot	VAR_037307	Disease	p.ASN61SER	Trimethylaminuria (TMAU)
Swiss-Prot	VAR_018345	Polymorphism	p.ASP198GLU	N/A
dbSNP	rs12072582	Polymorphism	p.ASP132HIS	N/A
Swiss-Prot	VAR_042705	Polymorphism	p.GLU24ASP	N/A
Swiss-Prot	VAR_014846	Polymorphism	p.GLU362GLN	N/A
Swiss-Prot	VAR_002427	Polymorphism	p.GLU308GLY	N/A
Swiss-Prot	VAR_002425	Polymorphism	p.GLU158LYS	N/A
Swiss-Prot	VAR_037306	Disease	p.GLU32LYS	Trimethylaminuria (TMAU)
Swiss-Prot	VAR_015366	Polymorphism	p.GLY503ARG	N/A
Swiss-Prot	VAR_015365	Polymorphism	p.LEU360PRO	N/A
Swiss-Prot	VAR_042707	Polymorphism	p.LYS416ASN	N/A
Swiss-Prot	VAR_037308	Disease	p.MET434ILE	Trimethylaminuria (TMAU)
Swiss-Prot	VAR_002423	Disease	p.MET66ILE	Trimethylaminuria (TMAU)
Swiss-Prot	VAR_002424	Disease	p.PRO153LEU	Trimethylaminuria (TMAU)
Swiss-Prot	VAR_014845	Polymorphism	p.VAL277ALA	N/A
Swiss-Prot	VAR_002426	Polymorphism	p.VAL257MET	N/A
OMIM	136132.0008	Disease	p.ALA52THR	TRIMETHYLAMINURIA
OMIM	136132.0007	Disease	p.ARG387LEU	TRIMETHYLAMINURIA
OMIM	136132.0005	Disease	p.ARG492TRP	TRIMETHYLAMINURIA
OMIM	136132.0010	Disease	p.ASN61SER	TRIMETHYLAMINURIA
OMIM	136132.0015	Disease	p.GLU308GLY	TRIMETHYLAMINURIA, MILD
OMIM	136132.0015	Disease	p.GLU158LYS	TRIMETHYLAMINURIA, MILD
OMIM	136132.0013	Disease	p.GLU32LYS	TRIMETHYLAMINURIA
OMIM	136132.0001	Disease	p.GLU305TER	TRIMETHYLAMINURIA
OMIM	136132.0009	Disease	p.GLU314TER	TRIMETHYLAMINURIA
OMIM	136132.0006	Disease	p.GLY148TER	FMO3 ACTIVITY, DECREASED
OMIM	136132.0011	Disease	p.MET434ILE	TRIMETHYLAMINURIA
OMIM	136132.0003	Disease	p.MET66ILE	TRIMETHYLAMINURIA
OMIM	136132.0004	Disease	p.PRO153LEU	TRIMETHYLAMINURIA
OMIM	136132.0002	Disease	p.VAL257MET	TRIMETHYLAMINURIA

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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