Joint Shantou International Eye Centre of Shantou University and The Chinese University of Hong Kong

Gene : OTX2
    
OMIM : 600037
    
UniProt : P32243
    
AmiGO : P32243
    
WT/mutant : Missense Mutation
    
Phenotype : Microphthalmia, syndromic 5 Pituitary hormone deficiency, combined, 6 Retinal dystrophy, early-onset, with or without pituitary dysfunction
Protein sequence ( length = 289 ) :
Alphafold2:

pLDDT : 59.6783
RoseTTA:

B-factor : 8.2862