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Results for the Protein: NP_001138574
223029440

mothers against decapentaplegic homolog 3 isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  LOEYS-DIETZ SYNDROME, TYPE 3
7
1
7
1
0
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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-114121296
MH2pfam031663.3e-120125298
DWBsmart005242e-109126296

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs35874463 Polymorphismp.ILE65VALN/A
OMIM603109.0007 Diseasep.ALA7VALLOEYS-DIETZ SYNDROME, TYPE 3
OMIM603109.0005 Diseasep.ARG174LYSLOEYS-DIETZ SYNDROME, TYPE 3
OMIM603109.0001 Diseasep.ARG182TRPLOEYS-DIETZ SYNDROME, TYPE 3
OMIM603109.0006 Diseasep.GLU134LYSLOEYS-DIETZ SYNDROME, TYPE 3
OMIM603109.0010 Diseasep.GLU256TERLOEYS-DIETZ SYNDROME, TYPE 3
OMIM603109.0009 Diseasep.PRO158LEULOEYS-DIETZ SYNDROME, TYPE 3
OMIM603109.0003 Diseasep.THR156ILELOEYS-DIETZ SYNDROME, TYPE 3



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