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Results for the Protein: P07202
160281455
TPO

PERT_HUMAN RecName: Full=Thyroid peroxidase; Short=TPO; Flags: Precursor

Known Diseases associated with this Protein:
  THYROID DYSHORMONOGENESIS 2A
  THYROID DYSHORMONOGENESIS 2A (TDH2A)
32
11
8
10
25
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An_peroxidase - pfam03098
CCP - smart00032
CCP - cd00033
EGF_CA - smart00179
EGF_CA - cd00054
EGF_CA - pfam07645
EGF - cd00053
EGF - smart00181
EGF - pfam00008


Swiss-Prot Protein: P07202
Identical to: NP_001193673, NP_000538
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
EGF_CAcd000543.6e-14796839
EGFcd000537.2e-10799839
An_peroxidasepfam030981.5e-246151709
EGFpfam000082.3e-05800837
CCPsmart000321.2e-10742794
EGF_CApfam076453.3e-13796838
EGF_CAsmart001798.8e-15796839
EGFsmart001812.7e-10799839

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_021622Diseasep.ALA53PROThyroid dyshormonogenesis 2A (TDH2A)
dbSNPrs4927611 Polymorphismp.ALA257SERN/A
dbSNPrs2280132 Polymorphismp.ALA373SERN/A
Swiss-ProtVAR_021625Diseasep.ALA326THRThyroid dyshormonogenesis 2A (TDH2A)
Swiss-ProtVAR_013138Diseasep.ARG648GLNThyroid dyshormonogenesis 2A (TDH2A)
Swiss-ProtVAR_021628Diseasep.ARG491HISThyroid dyshormonogenesis 2A (TDH2A)
Swiss-ProtVAR_021633Diseasep.ARG665TRPThyroid dyshormonogenesis 2A (TDH2A)
Swiss-ProtVAR_021634Diseasep.ARG693TRPThyroid dyshormonogenesis 2A (TDH2A)
Swiss-ProtVAR_027236Polymorphismp.ARG846TRPN/A
Swiss-ProtVAR_021624Diseasep.ASN307THRThyroid dyshormonogenesis 2A (TDH2A)
Swiss-ProtVAR_021623Diseasep.ASP240ASNThyroid dyshormonogenesis 2A (TDH2A)
dbSNPrs1126797 Polymorphismp.ASP666GLUN/A
Swiss-ProtVAR_021636Diseasep.ASP796TYRThyroid dyshormonogenesis 2A (TDH2A)
Swiss-ProtVAR_021637Diseasep.CYS808ARGThyroid dyshormonogenesis 2A (TDH2A)
Swiss-ProtVAR_021632Diseasep.GLN660GLUThyroid dyshormonogenesis 2A (TDH2A)
Swiss-ProtVAR_025784Diseasep.GLU378LYSThyroid dyshormonogenesis 2A (TDH2A)
Swiss-ProtVAR_006062Diseasep.GLU799LYSThyroid dyshormonogenesis 2A (TDH2A)
Swiss-ProtVAR_021635Diseasep.GLY771ARGThyroid dyshormonogenesis 2A (TDH2A)
Swiss-ProtVAR_027229Diseasep.GLY533CYSThyroid dyshormonogenesis 2A (TDH2A)
Swiss-ProtVAR_021629Diseasep.GLY493SERThyroid dyshormonogenesis 2A (TDH2A)
Swiss-ProtVAR_027231Diseasep.GLY590SERThyroid dyshormonogenesis 2A (TDH2A)
Swiss-ProtVAR_015375Diseasep.ILE447PHEThyroid dyshormonogenesis 2A (TDH2A)
dbSNPrs114796303 Polymorphismp.LEU529PHEN/A
Swiss-ProtVAR_021627Diseasep.LEU458PROThyroid dyshormonogenesis 2A (TDH2A)
dbSNPrs28991293 Polymorphismp.LEU793PRON/A
dbSNPrs13431173 Polymorphismp.MET706VALN/A
Swiss-ProtVAR_021630Diseasep.PRO499LEUThyroid dyshormonogenesis 2A (TDH2A)
dbSNPrs2175977 Polymorphismp.SER398THRN/A
dbSNPrs732609 Polymorphismp.THR725PRON/A
Swiss-ProtVAR_021631Diseasep.TRP527CYSThyroid dyshormonogenesis 2A (TDH2A)
Swiss-ProtVAR_006060Diseasep.TYR453ASPThyroid dyshormonogenesis 2A (TDH2A)
dbSNPrs1126799 Polymorphismp.VAL847ALAN/A
Swiss-ProtVAR_027235Diseasep.VAL839ILEThyroid dyshormonogenesis 2A (TDH2A)
Swiss-ProtVAR_021626Diseasep.VAL433METThyroid dyshormonogenesis 2A (TDH2A)
dbSNPrs10189135 Polymorphismp.VAL618METN/A
OMIM606765.0009 Diseasep.ARG648GLNTHYROID DYSHORMONOGENESIS 2A
OMIM606765.0003 Diseasep.ARG540TERTHYROID DYSHORMONOGENESIS 2A
OMIM606765.0012 Diseasep.ARG693TRPTHYROID DYSHORMONOGENESIS 2A
OMIM606765.0014 Diseasep.GLN660GLUTHYROID DYSHORMONOGENESIS 2A
OMIM606765.0007 Diseasep.GLU799LYSTHYROID DYSHORMONOGENESIS 2A
OMIM606765.0006 Diseasep.GLY590SERTHYROID DYSHORMONOGENESIS 2A
OMIM606765.0004 Diseasep.ILE447PHETHYROID DYSHORMONOGENESIS 2A
OMIM606765.0005 Diseasep.TYR453ASPTHYROID DYSHORMONOGENESIS 2A



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