Gene : PAX6

    

OMIM : 607108

    

UniProt : P26367

    

AmiGO : P26367

    

WT/mutant : Missense Mutation

    

Phenotype : Anterior segment dysgenesis 5, multiple subtypes Cataract with late-onset corneal dystrophy Foveal hypoplasia 1 Keratitis Optic nerve hypoplasia Coloboma of optic nerve Coloboma, ocular Morning glory disc anomaly Aniridia

Protein sequence ( length = 422 ) :

MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRYYETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWSSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ