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Results for the Protein: NP_001138576
223029444

mothers against decapentaplegic homolog 3 isoform 4 [Homo sapiens]

Known Diseases associated with this Protein:
  LOEYS-DIETZ SYNDROME, TYPE 3
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Default View:

MH2 - cd00050
MH2 - pfam03166
DWB - smart00524




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
MH2cd000501.5e-11431206
MH2pfam031663.3e-12035208
DWBsmart005242e-10936206

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM603109.0005 Diseasep.ARG84LYSLOEYS-DIETZ SYNDROME, TYPE 3
OMIM603109.0001 Diseasep.ARG92TRPLOEYS-DIETZ SYNDROME, TYPE 3
OMIM603109.0006 Diseasep.GLU44LYSLOEYS-DIETZ SYNDROME, TYPE 3
OMIM603109.0010 Diseasep.GLU166TERLOEYS-DIETZ SYNDROME, TYPE 3
OMIM603109.0009 Diseasep.PRO68LEULOEYS-DIETZ SYNDROME, TYPE 3
OMIM603109.0003 Diseasep.THR66ILELOEYS-DIETZ SYNDROME, TYPE 3



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