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Results for the Protein: O75030
13124344

MITF_HUMAN RecName: Full=Microphthalmia-associated transcription factor; AltName: Full=Class E basic helix-loop-helix protein 32; Short=bHLHe32

Known Diseases associated with this Protein:
  TIETZ SYNDROME (TIETZS)
  WAARDENBURG SYNDROME 2A (WS2A)
4
2
0
0
6
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Default View:

HLH - cd00083
HLH - pfam00010
HLH - smart00353
DUF3371 - pfam11851


Swiss-Prot Protein: O75030
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
HLHpfam000102.1e-18312365
HLHsmart003536.3e-18317370
DUF3371pfam118511.1e-69397523

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_010297Polymorphismp.ARG310LYSN/A
Swiss-ProtVAR_010301Diseasep.ASN385ASPWaardenburg syndrome 2A (WS2A)
Swiss-ProtVAR_010298Diseasep.ASN317LYSTietz syndrome (TIETZS)
Swiss-ProtVAR_067367Polymorphismp.GLU425LYSN/A
Swiss-ProtVAR_010300Diseasep.SER357PROWaardenburg syndrome 2A (WS2A)
Swiss-ProtVAR_010302Diseasep.SER405PROWaardenburg syndrome 2A (WS2A)



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