Results for the protein: Q9Y6X0

Results for the Protein: Q9Y6X0

294862494

26040

SETBP1

NCBI, UniProt

SETBP_HUMAN RecName: Full=SET-binding protein; Short=SEB

Known Diseases associated with this Protein:
  LEUKEMIA, ACUTE MYELOGENOUS (AML)
  LEUKEMIA, CHRONIC MYELOID, ATYPICAL (ACML)
  MYELODYSPLASTIC SYNDROME (MDS)
  SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME
  SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (SGMFS)

16

16

5

3

24

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Default View:	Swiss-Prot Protein: Q9Y6X0 Identical to: NP_056374 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_069863	Polymorphism	p.ARG1321HIS	N/A
Swiss-Prot	VAR_035987	Polymorphism	p.ARG1162TRP	N/A
Swiss-Prot	VAR_063806	Disease	p.ASP868ALA	Schinzel-Giedion midface retraction syndrome (SGMFS)
Swiss-Prot	VAR_069859	Polymorphism	p.ASP880ALA	N/A
Swiss-Prot	VAR_063807	Disease	p.ASP868ASN	Schinzel-Giedion midface retraction syndrome (SGMFS)
Swiss-Prot	VAR_069858	Polymorphism	p.ASP874ASN	N/A
Swiss-Prot	VAR_069861	Polymorphism	p.ASP880ASN	N/A
Swiss-Prot	VAR_069862	Polymorphism	p.ASP908ASN	N/A
Swiss-Prot	VAR_069860	Polymorphism	p.ASP880GLU	N/A
Swiss-Prot	VAR_069850	Polymorphism	p.ASP868GLY	N/A
Swiss-Prot	VAR_069851	Polymorphism	p.ASP868TYR	N/A
Swiss-Prot	VAR_069849	Disease	p.GLU858LYS	Leukemia, chronic myeloid, atypical (ACML)
Swiss-Prot	VAR_069854	Disease	p.GLY870ARG	Leukemia, acute myelogenous (AML)
Swiss-Prot	VAR_063808	Disease	p.GLY870ASP	Schinzel-Giedion midface retraction syndrome (SGMFS)
Swiss-Prot	VAR_063809	Disease	p.GLY870SER	Schinzel-Giedion midface retraction syndrome (SGMFS)
Swiss-Prot	VAR_069855	Polymorphism	p.GLY870VAL	N/A
Swiss-Prot	VAR_069856	Disease	p.ILE871SER	Leukemia, acute myelogenous (AML)
Swiss-Prot	VAR_063810	Disease	p.ILE871THR	Schinzel-Giedion midface retraction syndrome (SGMFS)
dbSNP	rs1064204	Polymorphism	p.PRO1130THR	N/A
Swiss-Prot	VAR_069848	Disease	p.SER854ALA	Leukemia, acute myelogenous (AML)
Swiss-Prot	VAR_069853	Polymorphism	p.SER869ARG	N/A
Swiss-Prot	VAR_069852	Disease	p.SER869ASN	Myelodysplastic syndrome (MDS)
Swiss-Prot	VAR_069857	Disease	p.THR873ARG	Myelodysplastic syndrome (MDS)
dbSNP	rs3744825	Polymorphism	p.VAL1101ILE	N/A
dbSNP	rs11082414	Polymorphism	p.VAL231ILE	N/A
Swiss-Prot	VAR_069864	Polymorphism	p.VAL1377LEU	N/A
Swiss-Prot	VAR_024347	Polymorphism	p.VAL231LEU	N/A
OMIM	611060.0003	Disease	p.ASP868ALA	SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME
OMIM	611060.0002	Disease	p.ASP868ASN	SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME
OMIM	611060.0004	Disease	p.GLY870ASP	SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME
OMIM	611060.0005	Disease	p.GLY870SER	SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME
OMIM	611060.0001	Disease	p.ILE871THR	SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME

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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