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

Gene : POMGNT1
    
OMIM : 606822
    
UniProt : Q8WZA1
    
AmiGO : Q8WZA1
    
WT/mutant : Missense Mutation
    
Phenotype : Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 3 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 Retinitis pigmentosa 76
Protein sequence ( length = 660 ) :
Alphafold2:

pLDDT : 90.1927
Full-screen view
Download pdb
RoseTTA:

B-factor : 8.0472
Full-screen view
Download pdb