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Results for the Protein: P84022
51338669

SMAD3_HUMAN RecName: Full=Mothers against decapentaplegic homolog 3; Short=MAD homolog 3; Short=Mad3; Short=Mothers against DPP homolog 3; Short=hMAD-3; AltName: Full=JV15-2; AltName: Full=SMAD family member 3; Short=SMAD 3; Short=Smad3; Short=hSMAD3

Known Diseases associated with this Protein:
  LOEYS-DIETZ SYNDROME 3 (LDS3)
  LOEYS-DIETZ SYNDROME, TYPE 3
12
2
7
1
6
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Default View:

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


Swiss-Prot Protein: P84022
Identical to: NP_005893
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
MH1cd000492.8e-7310132
MH2cd000501.5e-114226401
MH1pfam031653e-6227131
MH2pfam031663.3e-120230403
DWAsmart005231.5e-7026134
DWBsmart005242e-109231401

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_067051Diseasep.ALA112VALLoeys-Dietz syndrome 3 (LDS3)
Swiss-ProtVAR_067048Diseasep.ARG279LYSLoeys-Dietz syndrome 3 (LDS3)
Swiss-ProtVAR_065579Diseasep.ARG287TRPLoeys-Dietz syndrome 3 (LDS3)
Swiss-ProtVAR_067047Diseasep.GLU239LYSLoeys-Dietz syndrome 3 (LDS3)
dbSNPrs35874463 Polymorphismp.ILE170VALN/A
Swiss-ProtVAR_036474Polymorphismp.PRO393LEUN/A
Swiss-ProtVAR_065578Diseasep.THR261ILELoeys-Dietz syndrome 3 (LDS3)
OMIM603109.0007 Diseasep.ALA112VALLOEYS-DIETZ SYNDROME, TYPE 3
OMIM603109.0005 Diseasep.ARG279LYSLOEYS-DIETZ SYNDROME, TYPE 3
OMIM603109.0001 Diseasep.ARG287TRPLOEYS-DIETZ SYNDROME, TYPE 3
OMIM603109.0006 Diseasep.GLU239LYSLOEYS-DIETZ SYNDROME, TYPE 3
OMIM603109.0010 Diseasep.GLU361TERLOEYS-DIETZ SYNDROME, TYPE 3
OMIM603109.0009 Diseasep.PRO263LEULOEYS-DIETZ SYNDROME, TYPE 3
OMIM603109.0003 Diseasep.THR261ILELOEYS-DIETZ SYNDROME, TYPE 3



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