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Results for the Protein: NP_000351
88900503
TH

tyrosine 3-monooxygenase isoform b [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_000351
   Default View:









Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ACT_THcd049302e-6738159
ACT_AAAHcd049042.8e-3182159
ACT_AAAH-PDT-likecd048804.8e-1083159
eu_TrpOHcd033463e-156164450
eu_PheOHcd033472.2e-195164469
eu_TyrOHcd033452.1e-264165462
pro_PheOHcd033481.2e-51214443
arom_aa_hydroxylasecd003611e-153220443
Biopterin_Hpfam003512e-218164472
COG3186COG31865.7e-22188477
TOH_Npfam125494.1e-10226

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs6356 Polymorphismp.VAL81METN/A
OMIM191290.0012 Diseasep.ARG171HISSEGAWA SYNDROME, AUTOSOMAL RECESSIVE
OMIM191290.0003 Diseasep.ARG202HISSEGAWA SYNDROME, AUTOSOMAL RECESSIVE
OMIM191290.0004 Diseasep.ARG306HISSEGAWA SYNDROME, AUTOSOMAL RECESSIVE
OMIM191290.0011 Diseasep.CYS328PHESEGAWA SYNDROME, AUTOSOMAL RECESSIVE
OMIM191290.0001 Diseasep.GLN381LYSSEGAWA SYNDROME, AUTOSOMAL RECESSIVE
OMIM191290.0002 Diseasep.LEU205PROSEGAWA SYNDROME, AUTOSOMAL RECESSIVE
OMIM191290.0007 Diseasep.THR283METSEGAWA SYNDROME, AUTOSOMAL RECESSIVE
OMIM191290.0005 Diseasep.THR463METSEGAWA SYNDROME, AUTOSOMAL RECESSIVE
OMIM191290.0006 Diseasep.THR245PROSEGAWA SYNDROME, AUTOSOMAL RECESSIVE



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