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Results for the Protein: O43541
115502451

SMAD6_HUMAN RecName: Full=Mothers against decapentaplegic homolog 6; Short=MAD homolog 6; Short=Mothers against DPP homolog 6; AltName: Full=SMAD family member 6; Short=SMAD 6; Short=Smad6; Short=hSMAD6

Known Diseases associated with this Protein:
  AORTIC VALVE DISEASE 2
  AORTIC VALVE DISEASE 2 (AOVD2)
4
1
2
0
3
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Default View:

MH1 - cd00049
DWA - smart00523
MH1 - pfam03165
MH2 - cd00050
MH2 - pfam03166
DWB - smart00524


Swiss-Prot Protein: O43541
Identical to: NP_005576
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
MH2cd000503.6e-94325493
MH1pfam031653.5e-44168270
MH2pfam031661.7e-84329495
DWAsmart005235.7e-54167273
DWBsmart005246.7e-87330493

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_068074Polymorphismp.ALA325THRN/A
Swiss-ProtVAR_068076Diseasep.CYS484PHEAortic valve disease 2 (AOVD2)
Swiss-ProtVAR_068075Diseasep.PRO415LEUAortic valve disease 2 (AOVD2)
OMIM602931.0001 Diseasep.CYS484PHEAORTIC VALVE DISEASE 2
OMIM602931.0002 Diseasep.PRO415LEUAORTIC VALVE DISEASE 2



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