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

Gene : NMNAT1
    
OMIM : 608700
    
UniProt : Q9HAN9
    
AmiGO : Q9HAN9
    
WT/mutant : Missense Mutation
    
Phenotype : Leber congenital amaurosis 9 Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis
Protein sequence ( length = 279 ) :
Alphafold2:

pLDDT : 89.1203
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RoseTTA:

B-factor : 7.9365
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