Results for the protein: Q13485

Results for the Protein: Q13485

13959561

4089

SMAD4

NCBI, UniProt

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 ↕
DWB	smart00524	3.3e-126	322	530

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_019572	Disease	p.ARG361CYS	Juvenile polyposis syndrome (JPS)
Swiss-Prot	VAR_036477	Polymorphism	p.ARG361HIS	N/A
Swiss-Prot	VAR_066870	Polymorphism	p.ASN13SER	N/A
Swiss-Prot	VAR_036476	Polymorphism	p.ASP351ASN	N/A
Swiss-Prot	VAR_011380	Polymorphism	p.ASP493HIS	N/A
Swiss-Prot	VAR_022833	Disease	p.GLU330GLY	Juvenile polyposis syndrome (JPS)
Swiss-Prot	VAR_019571	Disease	p.GLY352ARG	Juvenile polyposis syndrome (JPS)
Swiss-Prot	VAR_019573	Disease	p.GLY386ASP	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JP/HHT)
Swiss-Prot	VAR_067602	Disease	p.ILE500MET	Myhre syndrome (MYHRS)
Swiss-Prot	VAR_067603	Disease	p.ILE500THR	Myhre syndrome (MYHRS)
Swiss-Prot	VAR_067604	Disease	p.ILE500VAL	Myhre syndrome (MYHRS)
Swiss-Prot	VAR_036475	Polymorphism	p.PRO130SER	N/A
Swiss-Prot	VAR_052022	Polymorphism	p.TRP101GLY	N/A
OMIM	600993.0008	Disease	p.ARG361CYS	JUVENILE POLYPOSIS SYNDROME\|\|JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME,\|\|INCLUDED
OMIM	600993.0014	Disease	p.ARG445TER	JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME
OMIM	600993.0004	Disease	p.ARG515TER	PANCREATIC CARCINOMA, SOMATIC
OMIM	600993.0003	Disease	p.ASP493HIS	PANCREATIC CARCINOMA, SOMATIC
OMIM	600993.0011	Disease	p.GLY352ARG	JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME
OMIM	600993.0010	Disease	p.GLY386ASP	JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME
OMIM	600993.0001	Disease	p.GLY358TER	PANCREATIC CARCINOMA, SOMATIC
OMIM	600993.0017	Disease	p.ILE500MET	MYHRE SYNDROME
OMIM	600993.0015	Disease	p.ILE500THR	MYHRE SYNDROME
OMIM	600993.0016	Disease	p.ILE500VAL	MYHRE SYNDROME
OMIM	600993.0002	Disease	p.TYR412TER	PANCREATIC CARCINOMA, SOMATIC

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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