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Results for the Protein: NP_001193674
332078492
TPO

thyroid peroxidase isoform b precursor [Homo sapiens]

Known Diseases associated with this Protein:
  THYROID DYSHORMONOGENESIS 2A
6
10
6
10
0
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Default View:

An_peroxidase - pfam03098
CCP - smart00032
CCP - cd00033
EGF_CA - smart00179
EGF_CA - cd00054
EGF_CA - pfam07645
EGF - cd00053
EGF - smart00181
EGF - pfam00008




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
EGF_CAcd000543.6e-14739782
EGFcd000537.2e-10742782
An_peroxidasepfam030983.7e-192151652
EGFpfam000082.3e-05743780
CCPsmart000321.2e-10685737
EGF_CApfam076453.3e-13739781
EGF_CAsmart001798.8e-15739782
EGFsmart001812.7e-10742782

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs4927611 Polymorphismp.ALA257SERN/A
dbSNPrs2280132 Polymorphismp.ALA373SERN/A
dbSNPrs1126797 Polymorphismp.ASP609GLUN/A
dbSNPrs114796303 Polymorphismp.LEU529PHEN/A
dbSNPrs28991293 Polymorphismp.LEU736PRON/A
dbSNPrs13431173 Polymorphismp.MET649VALN/A
dbSNPrs2175977 Polymorphismp.SER398THRN/A
dbSNPrs732609 Polymorphismp.THR668PRON/A
dbSNPrs1126799 Polymorphismp.VAL790ALAN/A
dbSNPrs10189135 Polymorphismp.VAL561METN/A
OMIM606765.0009 Diseasep.ARG591GLNTHYROID DYSHORMONOGENESIS 2A
OMIM606765.0012 Diseasep.ARG636TRPTHYROID DYSHORMONOGENESIS 2A
OMIM606765.0014 Diseasep.GLN603GLUTHYROID DYSHORMONOGENESIS 2A
OMIM606765.0007 Diseasep.GLU742LYSTHYROID DYSHORMONOGENESIS 2A
OMIM606765.0004 Diseasep.ILE447PHETHYROID DYSHORMONOGENESIS 2A
OMIM606765.0005 Diseasep.TYR453ASPTHYROID DYSHORMONOGENESIS 2A



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