EyeProdb

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

By gene

By phenotype

Gene : AP3B1

OMIM : 603401

UniProt : O00203

AmiGO : O00203

Phenotype : Hermansky-Pudlak syndrome 2

Predicted PDB	WT/mutant	Sequence length	AlphaFold2 pLDDT	RoseTTA B-factor
AP3B1390-410MISSING	Deletion	1073	73.0917_70.4523_69.6628_68.6019_68.441	7.835_8.378_8.3789_8.3789_8.3819
AP3B1L580R	Missense Mutation	1094	74.4777_72.5244_70.8087_70.6838_69.5411	8.0202_8.0201_8.0202_8.0202_8.0201
AP3B1WT	Wildtype	1094	75.0073_72.5259_71.3959_71.2005_70.7446	8.0201_8.0201_8.0202_8.0202_8.0202