Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: P07101
239938945
TH

TY3H_HUMAN RecName: Full=Tyrosine 3-monooxygenase; AltName: Full=Tyrosine 3-hydroxylase; Short=TH

Known Diseases associated with this Protein:
  SEGAWA SYNDROME AUTOSOMAL RECESSIVE (ARSEGS)
  SEGAWA SYNDROME, AUTOSOMAL RECESSIVE
16
2
9
1
8
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

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



Default View:

TOH_N - pfam12549


Swiss-Prot Protein: P07101
Identical to: NP_954986
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
TOH_Npfam125494.1e-10226
TOH_Npfam125491.1e-063761

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_014026Diseasep.ARG233HISSegawa syndrome autosomal recessive (ARSEGS)
Swiss-ProtVAR_014030Diseasep.ARG337HISSegawa syndrome autosomal recessive (ARSEGS)
Swiss-ProtVAR_014031Diseasep.GLN412LYSSegawa syndrome autosomal recessive (ARSEGS)
Swiss-ProtVAR_014027Diseasep.LEU236PROSegawa syndrome autosomal recessive (ARSEGS)
Swiss-ProtVAR_014029Diseasep.THR314METSegawa syndrome autosomal recessive (ARSEGS)
Swiss-ProtVAR_014032Diseasep.THR494METSegawa syndrome autosomal recessive (ARSEGS)
Swiss-ProtVAR_014028Diseasep.THR276PROSegawa syndrome autosomal recessive (ARSEGS)
dbSNPrs6356 Polymorphismp.VAL112METN/A
Swiss-ProtVAR_014033Polymorphismp.VAL499METN/A
OMIM191290.0012 Diseasep.ARG202HISSEGAWA SYNDROME, AUTOSOMAL RECESSIVE
OMIM191290.0003 Diseasep.ARG233HISSEGAWA SYNDROME, AUTOSOMAL RECESSIVE
OMIM191290.0004 Diseasep.ARG337HISSEGAWA SYNDROME, AUTOSOMAL RECESSIVE
OMIM191290.0011 Diseasep.CYS359PHESEGAWA SYNDROME, AUTOSOMAL RECESSIVE
OMIM191290.0001 Diseasep.GLN412LYSSEGAWA SYNDROME, AUTOSOMAL RECESSIVE
OMIM191290.0002 Diseasep.LEU236PROSEGAWA SYNDROME, AUTOSOMAL RECESSIVE
OMIM191290.0007 Diseasep.THR314METSEGAWA SYNDROME, AUTOSOMAL RECESSIVE
OMIM191290.0005 Diseasep.THR494METSEGAWA SYNDROME, AUTOSOMAL RECESSIVE
OMIM191290.0006 Diseasep.THR276PROSEGAWA SYNDROME, AUTOSOMAL RECESSIVE



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258