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Results for the Protein: Q13485
13959561

SMAD4_HUMAN RecName: Full=Mothers against decapentaplegic homolog 4; Short=MAD homolog 4; Short=Mothers against DPP homolog 4; AltName: Full=Deletion target in pancreatic carcinoma 4; AltName: Full=SMAD family member 4; Short=SMAD 4; Short=Smad4; Short=hSMAD4

Known Diseases associated with this Protein:
  INCLUDED
  JUVENILE POLYPOSIS SYNDROME
  JUVENILE POLYPOSIS SYNDROME (JPS)
  JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME
  JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (JP/HHT)
  JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME,
  MYHRE SYNDROME
  MYHRE SYNDROME (MYHRS)
  PANCREATIC CARCINOMA, SOMATIC
18
6
11
0
13
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Default View:

DWA - smart00523
DWB - smart00524


Swiss-Prot Protein: Q13485
Identical to: NP_005350
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
DWAsmart005237.9e-6631140
DWBsmart005243.3e-126322530

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_019572Diseasep.ARG361CYSJuvenile polyposis syndrome (JPS)
Swiss-ProtVAR_036477Polymorphismp.ARG361HISN/A
Swiss-ProtVAR_066870Polymorphismp.ASN13SERN/A
Swiss-ProtVAR_036476Polymorphismp.ASP351ASNN/A
Swiss-ProtVAR_011380Polymorphismp.ASP493HISN/A
Swiss-ProtVAR_022833Diseasep.GLU330GLYJuvenile polyposis syndrome (JPS)
Swiss-ProtVAR_019571Diseasep.GLY352ARGJuvenile polyposis syndrome (JPS)
Swiss-ProtVAR_019573Diseasep.GLY386ASPJuvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JP/HHT)
Swiss-ProtVAR_067602Diseasep.ILE500METMyhre syndrome (MYHRS)
Swiss-ProtVAR_067603Diseasep.ILE500THRMyhre syndrome (MYHRS)
Swiss-ProtVAR_067604Diseasep.ILE500VALMyhre syndrome (MYHRS)
Swiss-ProtVAR_036475Polymorphismp.PRO130SERN/A
Swiss-ProtVAR_052022Polymorphismp.TRP101GLYN/A
OMIM600993.0008 Diseasep.ARG361CYSJUVENILE POLYPOSIS SYNDROME||JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME,||INCLUDED
OMIM600993.0014 Diseasep.ARG445TERJUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME
OMIM600993.0004 Diseasep.ARG515TERPANCREATIC CARCINOMA, SOMATIC
OMIM600993.0003 Diseasep.ASP493HISPANCREATIC CARCINOMA, SOMATIC
OMIM600993.0011 Diseasep.GLY352ARGJUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME
OMIM600993.0010 Diseasep.GLY386ASPJUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME
OMIM600993.0001 Diseasep.GLY358TERPANCREATIC CARCINOMA, SOMATIC
OMIM600993.0017 Diseasep.ILE500METMYHRE SYNDROME
OMIM600993.0015 Diseasep.ILE500THRMYHRE SYNDROME
OMIM600993.0016 Diseasep.ILE500VALMYHRE SYNDROME
OMIM600993.0002 Diseasep.TYR412TERPANCREATIC CARCINOMA, SOMATIC



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