Results for the protein: NP

Results for the Protein: NP_001245392

386642913

5080

PAX6

NCBI

paired box protein Pax-6 isoform b [Homo sapiens]

Known Diseases associated with this Protein:
  ANIRIDIA
  ANIRIDIA, ATYPICAL
  ANIRIDIA, CEREBELLAR ATAXIA, AND MENTAL RETARDATION
  ANIRIDIA, INCLUDED
  CATARACTS, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY
  COLOBOMA OF OPTIC NERVE
  COLOBOMA, OCULAR, INCLUDED
  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

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Tips:

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Default View: PAX - pfam00292 PAX - smart00351 PAX - cd00131 COG5576 - COG5576 HOX - smart00389 homeodomain - cd00086 Homeobox - pfam00046	RefSeq Protein: NP_001245392 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
homeodomain	cd00086	8.5e-27	225	283
PAX	pfam00292	6.9e-81	4	142
COG5576	COG5576	3.2e-05	180	333
Homeobox	pfam00046	8.4e-31	225	281
PAX	smart00351	5.4e-87	4	142
HOX	smart00389	3.9e-27	225	280

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
OMIM	607108.0012	Disease	p.ARG125CYS	FOVEAL HYPOPLASIA, ISOLATED
OMIM	607108.0004	Disease	p.ARG26GLY	PETERS ANOMALY\|\|ANIRIDIA, INCLUDED
OMIM	607108.0005	Disease	p.ARG103TER	ANIRIDIA
OMIM	607108.0008	Disease	p.ARG203TER	ANIRIDIA
OMIM	607108.0009	Disease	p.ARG240TER	ANIRIDIA
OMIM	607108.0022	Disease	p.ARG24THR	ANIRIDIA
OMIM	607108.0026	Disease	p.ARG38TRP	ANIRIDIA
OMIM	607108.0003	Disease	p.GLN116TER	ANIRIDIA
OMIM	607108.0018	Disease	p.GLN205TER	OPTIC NERVE HYPOPLASIA, BILATERAL
OMIM	607108.0014	Disease	p.GLY64VAL	FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME
OMIM	607108.0019	Disease	p.PHE258SER	COLOBOMA OF OPTIC NERVE\|\|COLOBOMA, OCULAR, INCLUDED
OMIM	607108.0017	Disease	p.PRO68SER	MORNING GLORY DISC ANOMALY
OMIM	607108.0023	Disease	p.SER119ARG	ANIRIDIA
OMIM	607108.0006	Disease	p.SER353TER	CATARACTS, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY
OMIM	607108.0016	Disease	p.TER423LEU	ANIRIDIA
OMIM	607108.0020	Disease	p.THR391ALA	OPTIC NERVE APLASIA, BILATERAL
OMIM	607108.0025	Disease	p.TRP257TER	ANIRIDIA, CEREBELLAR ATAXIA, AND MENTAL RETARDATION
OMIM	607108.0013	Disease	p.VAL126ASP	ANIRIDIA, ATYPICAL
OMIM	607108.0015	Disease	p.VAL54ASP	PETERS ANOMALY\|\|FOVEAL HYPOPLASIA, INCLUDED;;\|\|FOVEAL HYPOPLASIA WITH ANTERIOR SEGMENT ANOMALIES, INCLUDED

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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