Results for the protein: O14896

Results for the Protein: O14896

3122293

3664

IRF6

NCBI, UniProt

IRF6_HUMAN RecName: Full=Interferon regulatory factor 6; Short=IRF-6

Known Diseases associated with this Protein:
  POPLITEAL PTERYGIUM SYNDROME
  POPLITEAL PTERYGIUM SYNDROME (PPS)
  POPLITEAL PTERYGIUM SYNDROME, INCLUDED
  VAN DER WOUDE SYNDROME 1
  VAN DER WOUDE SYNDROME 1 (VWS1)

58

1

15

1

43

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Default View: IRF - smart00348 IRF-3 - pfam10401	Swiss-Prot Protein: O14896 Identical to: NP_006138 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
IRF-3	pfam10401	7.9e-89	223	407

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_014966	Disease	p.ALA61GLY	Van der Woude syndrome 1 (VWS1)
Swiss-Prot	VAR_030047	Disease	p.ALA16VAL	Van der Woude syndrome 1 (VWS1)
Swiss-Prot	VAR_014961	Disease	p.ALA2VAL	Van der Woude syndrome 1 (VWS1)
Swiss-Prot	VAR_030046	Disease	p.ARG6CYS	Van der Woude syndrome 1 (VWS1)
Swiss-Prot	VAR_014971	Disease	p.ARG84CYS	Popliteal pterygium syndrome (PPS)
Swiss-Prot	VAR_014977	Disease	p.ARG250GLN	Van der Woude syndrome 1 (VWS1)
Swiss-Prot	VAR_030049	Disease	p.ARG45GLN	Van der Woude syndrome 1 (VWS1)
Swiss-Prot	VAR_030051	Disease	p.ARG84GLY	Van der Woude syndrome 1 (VWS1)
Swiss-Prot	VAR_014972	Disease	p.ARG84HIS	Popliteal pterygium syndrome (PPS)
Swiss-Prot	VAR_059080	Disease	p.ARG339ILE	Van der Woude syndrome 1 (VWS1)
Swiss-Prot	VAR_064475	Disease	p.ARG84LEU	Popliteal pterygium syndrome (PPS)
Swiss-Prot	VAR_030056	Disease	p.ARG400TRP	Van der Woude syndrome 1 (VWS1)
Swiss-Prot	VAR_014973	Disease	p.ASN88HIS	Van der Woude syndrome 1 (VWS1)
Swiss-Prot	VAR_014991	Disease	p.ASP430ASN	Popliteal pterygium syndrome (PPS)
Swiss-Prot	VAR_014976	Disease	p.ASP98HIS	Van der Woude syndrome 1 (VWS1)
Swiss-Prot	VAR_014987	Disease	p.CYS347PHE	Van der Woude syndrome 1 (VWS1)
Swiss-Prot	VAR_014989	Disease	p.CYS374TRP	Van der Woude syndrome 1 (VWS1)
Swiss-Prot	VAR_014978	Disease	p.GLN273ARG	Van der Woude syndrome 1 (VWS1)
Swiss-Prot	VAR_014970	Disease	p.GLN82LYS	Popliteal pterygium syndrome (PPS)
Swiss-Prot	VAR_030054	Disease	p.GLU349VAL	Van der Woude syndrome 1 (VWS1)
Swiss-Prot	VAR_014968	Disease	p.GLY70ARG	Van der Woude syndrome 1 (VWS1)
Swiss-Prot	VAR_014985	Disease	p.GLY325GLU	Van der Woude syndrome 1 (VWS1)
Swiss-Prot	VAR_030048	Disease	p.LEU22PRO	Van der Woude syndrome 1 (VWS1)
Swiss-Prot	VAR_030053	Disease	p.LEU251PRO	Van der Woude syndrome 1 (VWS1)
Swiss-Prot	VAR_014981	Disease	p.LEU294PRO	Van der Woude syndrome 1 (VWS1)
Swiss-Prot	VAR_014986	Disease	p.LEU345PRO	Van der Woude syndrome 1 (VWS1)
Swiss-Prot	VAR_014983	Disease	p.LYS320GLU	Van der Woude syndrome 1 (VWS1)
Swiss-Prot	VAR_014990	Disease	p.LYS388GLU	Van der Woude syndrome 1 (VWS1)
Swiss-Prot	VAR_014974	Disease	p.LYS89GLU	Popliteal pterygium syndrome (PPS)
Swiss-Prot	VAR_014967	Disease	p.LYS66THR	Popliteal pterygium syndrome (PPS)
Swiss-Prot	VAR_014988	Disease	p.PHE369SER	Van der Woude syndrome 1 (VWS1)
Swiss-Prot	VAR_014964	Disease	p.PRO39ALA	Van der Woude syndrome 1 (VWS1)
Swiss-Prot	VAR_030055	Disease	p.PRO396SER	Van der Woude syndrome 1 (VWS1)
Swiss-Prot	VAR_014969	Disease	p.PRO76SER	Van der Woude syndrome 1 (VWS1)
Swiss-Prot	VAR_014975	Disease	p.SER90GLY	Van der Woude syndrome 1 (VWS1)
Swiss-Prot	VAR_064476	Disease	p.SER424LEU	Popliteal pterygium syndrome (PPS)
Swiss-Prot	VAR_030052	Disease	p.THR100ALA	Van der Woude syndrome 1 (VWS1)
Swiss-Prot	VAR_030050	Disease	p.THR64ILE	Van der Woude syndrome 1 (VWS1)
Swiss-Prot	VAR_014965	Disease	p.TRP60GLY	Popliteal pterygium syndrome (PPS)
Swiss-Prot	VAR_014962	Disease	p.VAL18ALA	Van der Woude syndrome 1 (VWS1)
dbSNP	rs2235371	Polymorphism	p.VAL274ILE	N/A
Swiss-Prot	VAR_014982	Disease	p.VAL297ILE	Van der Woude syndrome 1 (VWS1)
Swiss-Prot	VAR_014963	Disease	p.VAL18MET	Van der Woude syndrome 1 (VWS1)
Swiss-Prot	VAR_014984	Disease	p.VAL321MET	Van der Woude syndrome 1 (VWS1)
OMIM	607199.0006	Disease	p.ALA2VAL	VAN DER WOUDE SYNDROME 1
OMIM	607199.0007	Disease	p.ARG6CYS	VAN DER WOUDE SYNDROME 1
OMIM	607199.0004	Disease	p.ARG84CYS	POPLITEAL PTERYGIUM SYNDROME
OMIM	607199.0011	Disease	p.ARG45GLN	VAN DER WOUDE SYNDROME 1
OMIM	607199.0005	Disease	p.ARG84HIS	POPLITEAL PTERYGIUM SYNDROME
OMIM	607199.0013	Disease	p.ARG339ILE	VAN DER WOUDE SYNDROME 1\|\|POPLITEAL PTERYGIUM SYNDROME, INCLUDED
OMIM	607199.0015	Disease	p.ARG84LEU	POPLITEAL PTERYGIUM SYNDROME
OMIM	607199.0009	Disease	p.ARG400TRP	VAN DER WOUDE SYNDROME 1
OMIM	607199.0003	Disease	p.GLN393TER	POPLITEAL PTERYGIUM SYNDROME
OMIM	607199.0017	Disease	p.GLN49TER	VAN DER WOUDE SYNDROME 1
OMIM	607199.0001	Disease	p.GLU92TER	VAN DER WOUDE SYNDROME 1
OMIM	607199.0014	Disease	p.LEU22PRO	VAN DER WOUDE SYNDROME 1\|\|POPLITEAL PTERYGIUM SYNDROME, INCLUDED
OMIM	607199.0012	Disease	p.PRO396SER	VAN DER WOUDE SYNDROME 1
OMIM	607199.0016	Disease	p.SER424LEU	POPLITEAL PTERYGIUM SYNDROME
OMIM	607199.0008	Disease	p.TRP379TER	VAN DER WOUDE SYNDROME 1

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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