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Results for the Protein: NP_954987
88900505
TH

tyrosine 3-monooxygenase isoform c [Homo sapiens]

Known Diseases associated with this Protein:
  SEGAWA SYNDROME, AUTOSOMAL RECESSIVE
9
1
9
1
0
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Default View:

TOH_N - pfam12549
ACT_TH - cd04930
ACT_AAAH - cd04904
ACT_AAAH-PDT-like - cd04880
eu_TrpOH - cd03346
Biopterin_H - pfam00351
eu_PheOH - cd03347
eu_TyrOH - cd03345
COG3186 - COG3186
pro_PheOH - cd03348
arom_aa_hydroxylase - cd00361


RefSeq Protein: NP_954987
   Default View:









Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ACT_THcd049302e-6765186
ACT_AAAHcd049042.8e-31109186
ACT_AAAH-PDT-likecd048804.8e-10110186
eu_TrpOHcd033463e-156191477
eu_PheOHcd033472.2e-195191496
eu_TyrOHcd033452.1e-264192489
pro_PheOHcd033481.2e-51241470
arom_aa_hydroxylasecd003611e-153247470
Biopterin_Hpfam003512e-218191499
COG3186COG31865.7e-22215504
TOH_Npfam125494.1e-10226
TOH_Npfam125491.1e-063357

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs6356 Polymorphismp.VAL108METN/A
OMIM191290.0012 Diseasep.ARG198HISSEGAWA SYNDROME, AUTOSOMAL RECESSIVE
OMIM191290.0003 Diseasep.ARG229HISSEGAWA SYNDROME, AUTOSOMAL RECESSIVE
OMIM191290.0004 Diseasep.ARG333HISSEGAWA SYNDROME, AUTOSOMAL RECESSIVE
OMIM191290.0011 Diseasep.CYS355PHESEGAWA SYNDROME, AUTOSOMAL RECESSIVE
OMIM191290.0001 Diseasep.GLN408LYSSEGAWA SYNDROME, AUTOSOMAL RECESSIVE
OMIM191290.0002 Diseasep.LEU232PROSEGAWA SYNDROME, AUTOSOMAL RECESSIVE
OMIM191290.0007 Diseasep.THR310METSEGAWA SYNDROME, AUTOSOMAL RECESSIVE
OMIM191290.0005 Diseasep.THR490METSEGAWA SYNDROME, AUTOSOMAL RECESSIVE
OMIM191290.0006 Diseasep.THR272PROSEGAWA SYNDROME, AUTOSOMAL RECESSIVE



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