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Results for the Protein: NP_001138575
223029442

mothers against decapentaplegic homolog 3 isoform 3 [Homo sapiens]

Known Diseases associated with this Protein:
  LOEYS-DIETZ SYNDROME, TYPE 3
7
1
7
1
0
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Default View:

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




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
MH1cd000491.7e-20288
MH2cd000501.5e-114182357
MH1pfam031652.4e-25187
MH2pfam031663.3e-120186359
DWAsmart005231.2e-29690
DWBsmart005242e-109187357

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs35874463 Polymorphismp.ILE126VALN/A
OMIM603109.0007 Diseasep.ALA68VALLOEYS-DIETZ SYNDROME, TYPE 3
OMIM603109.0005 Diseasep.ARG235LYSLOEYS-DIETZ SYNDROME, TYPE 3
OMIM603109.0001 Diseasep.ARG243TRPLOEYS-DIETZ SYNDROME, TYPE 3
OMIM603109.0006 Diseasep.GLU195LYSLOEYS-DIETZ SYNDROME, TYPE 3
OMIM603109.0010 Diseasep.GLU317TERLOEYS-DIETZ SYNDROME, TYPE 3
OMIM603109.0009 Diseasep.PRO219LEULOEYS-DIETZ SYNDROME, TYPE 3
OMIM603109.0003 Diseasep.THR217ILELOEYS-DIETZ SYNDROME, TYPE 3



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