Results for the protein: P26367

Results for the Protein: P26367

6174889

5080

PAX6

NCBI, UniProt

PAX6_HUMAN RecName: Full=Paired box protein Pax-6; AltName: Full=Aniridia type II protein; AltName: Full=Oculorhombin

Known Diseases associated with this Protein:
  ANIRIDIA
  ANIRIDIA (AN)
  ANIRIDIA, ATYPICAL
  ANIRIDIA, CEREBELLAR ATAXIA, AND MENTAL RETARDATION
  ANIRIDIA, INCLUDED
  BILATERAL OPTIC NERVE HYPOPLASIA (BONH)
  CATARACTS, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY
  COLOBOMA OF IRIS CHOROID AND RETINA (COI)
  COLOBOMA OF OPTIC NERVE
  COLOBOMA, OCULAR, INCLUDED
  FOVEAL HYPOPLASIA (FOVHYP)
  FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME
  FOVEAL HYPOPLASIA WITH ANTERIOR SEGMENT ANOMALIES, INCLUDED
  FOVEAL HYPOPLASIA, INCLUDED;;
  FOVEAL HYPOPLASIA, ISOLATED
  MORNING GLORY DISC ANOMALY
  OPTIC NERVE APLASIA, BILATERAL
  OPTIC NERVE HYPOPLASIA, BILATERAL
  PETERS ANOMALY
  PETERS ANOMALY (PAN)

57

5

19

0

43

Tips:

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Default View: PAX - smart00351 PAX - cd00131 PAX - pfam00292 HTH_ARSR - cd00090 COG5576 - COG5576 HOX - smart00389 Homeobox - pfam00046 homeodomain - cd00086	Swiss-Prot Protein: P26367 Identical to: NP_001121084, NP_000271 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
HTH_ARSR	cd00090	0.001	18	92
homeodomain	cd00086	8.5e-27	211	269
PAX	pfam00292	8.5e-87	4	128
COG5576	COG5576	3.2e-05	166	319
Homeobox	pfam00046	8.4e-31	211	267
PAX	smart00351	4e-93	4	128
HOX	smart00389	3.9e-27	211	266

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_008703	Disease	p.ALA79GLU	Aniridia (AN)
Swiss-Prot	VAR_008695	Disease	p.ALA33PRO	Aniridia (AN)
Swiss-Prot	VAR_047867	Polymorphism	p.ALA321THR	N/A
Swiss-Prot	VAR_017541	Disease	p.ARG125CYS	Foveal hypoplasia (FOVHYP)
Swiss-Prot	VAR_003814	Disease	p.ARG128CYS	Foveal hypoplasia (FOVHYP)
Swiss-Prot	VAR_008706	Disease	p.ARG208GLN	Aniridia (AN)
Swiss-Prot	VAR_003812	Disease	p.ARG44GLN	Aniridia (AN)
Swiss-Prot	VAR_003810	Disease	p.ARG26GLY	Peters anomaly (PAN)
Swiss-Prot	VAR_047860	Disease	p.ARG19PRO	Aniridia (AN)
Swiss-Prot	VAR_047866	Disease	p.ARG242THR	Aniridia (AN)
Swiss-Prot	VAR_003816	Disease	p.ARG208TRP	Aniridia (AN)
Swiss-Prot	VAR_003808	Disease	p.ASN17SER	Aniridia (AN)
Swiss-Prot	VAR_047862	Disease	p.CYS52ARG	Aniridia (AN)
Swiss-Prot	VAR_017545	Polymorphism	p.GLN378ARG	N/A
Swiss-Prot	VAR_008708	Disease	p.GLN422ARG	Aniridia (AN)
Swiss-Prot	VAR_003815	Disease	p.GLN178HIS	Aniridia (AN)
Swiss-Prot	VAR_067698	Disease	p.GLY395ARG	Aniridia (AN)
Swiss-Prot	VAR_047868	Polymorphism	p.GLY387ASP	N/A
Swiss-Prot	VAR_047864	Disease	p.GLY73ASP	Aniridia (AN)
Swiss-Prot	VAR_003809	Disease	p.GLY18TRP	Aniridia (AN)
Swiss-Prot	VAR_008702	Disease	p.GLY64VAL	Foveal hypoplasia (FOVHYP)
Swiss-Prot	VAR_003813	Disease	p.ILE87ARG	Aniridia (AN)
Swiss-Prot	VAR_047865	Disease	p.ILE87LYS	Aniridia (AN)
Swiss-Prot	VAR_008694	Disease	p.ILE29SER	Aniridia (AN)
Swiss-Prot	VAR_008697	Disease	p.ILE42SER	Aniridia (AN)
Swiss-Prot	VAR_047863	Disease	p.ILE56THR	Aniridia (AN)
Swiss-Prot	VAR_003811	Disease	p.ILE29VAL	Aniridia (AN)
Swiss-Prot	VAR_047861	Disease	p.LEU46ARG	Aniridia (AN)
Swiss-Prot	VAR_017546	Disease	p.MET381VAL	Bilateral optic nerve hypoplasia (BONH)
Swiss-Prot	VAR_017542	Disease	p.PHE258SER	Coloboma of iris choroid and retina (COI)
Swiss-Prot	VAR_015065	Polymorphism	p.PRO118ARG	N/A
Swiss-Prot	VAR_015066	Disease	p.PRO375GLN	Aniridia (AN)
Swiss-Prot	VAR_017540	Polymorphism	p.PRO68SER	N/A
Swiss-Prot	VAR_008707	Disease	p.SER353ALA	Aniridia (AN)
Swiss-Prot	VAR_008704	Disease	p.SER119ARG	Aniridia (AN)
Swiss-Prot	VAR_017543	Disease	p.SER292ILE	Bilateral optic nerve hypoplasia (BONH)
Swiss-Prot	VAR_017544	Disease	p.SER363PRO	Peters anomaly (PAN)
Swiss-Prot	VAR_008698	Disease	p.SER43PRO	Aniridia (AN)
Swiss-Prot	VAR_017547	Disease	p.THR391ALA	Bilateral optic nerve hypoplasia (BONH)
Swiss-Prot	VAR_008701	Disease	p.THR63PRO	Aniridia (AN)
Swiss-Prot	VAR_008705	Disease	p.VAL126ASP	Aniridia (AN)
Swiss-Prot	VAR_008700	Disease	p.VAL53ASP	Peters anomaly (PAN)
Swiss-Prot	VAR_008699	Disease	p.VAL53LEU	Aniridia (AN)
OMIM	607108.0012	Disease	p.ARG111CYS	FOVEAL HYPOPLASIA, ISOLATED
OMIM	607108.0004	Disease	p.ARG26GLY	PETERS ANOMALY\|\|ANIRIDIA, INCLUDED
OMIM	607108.0008	Disease	p.ARG189TER	ANIRIDIA
OMIM	607108.0009	Disease	p.ARG226TER	ANIRIDIA
OMIM	607108.0005	Disease	p.ARG89TER	ANIRIDIA
OMIM	607108.0022	Disease	p.ARG24THR	ANIRIDIA
OMIM	607108.0026	Disease	p.ARG38TRP	ANIRIDIA
OMIM	607108.0003	Disease	p.GLN102TER	ANIRIDIA
OMIM	607108.0018	Disease	p.GLN191TER	OPTIC NERVE HYPOPLASIA, BILATERAL
OMIM	607108.0014	Disease	p.GLY50VAL	FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME
OMIM	607108.0019	Disease	p.PHE244SER	COLOBOMA OF OPTIC NERVE\|\|COLOBOMA, OCULAR, INCLUDED
OMIM	607108.0017	Disease	p.PRO54SER	MORNING GLORY DISC ANOMALY
OMIM	607108.0023	Disease	p.SER105ARG	ANIRIDIA
OMIM	607108.0006	Disease	p.SER339TER	CATARACTS, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY
OMIM	607108.0016	Disease	p.TER409LEU	ANIRIDIA
OMIM	607108.0020	Disease	p.THR377ALA	OPTIC NERVE APLASIA, BILATERAL
OMIM	607108.0025	Disease	p.TRP243TER	ANIRIDIA, CEREBELLAR ATAXIA, AND MENTAL RETARDATION
OMIM	607108.0015	Disease	p.VAL1ASP	PETERS ANOMALY\|\|FOVEAL HYPOPLASIA, INCLUDED;;\|\|FOVEAL HYPOPLASIA WITH ANTERIOR SEGMENT ANOMALIES, INCLUDED
OMIM	607108.0013	Disease	p.VAL112ASP	ANIRIDIA, ATYPICAL

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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