EyeProdb

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

By gene

By phenotype

Gene : COL18A1

OMIM : 120328

UniProt : P39060

AmiGO : P39060

Phenotype : Glaucoma, primary closed-angle Knobloch syndrome, type 1

Predicted PDB	WT/mutant	Sequence length	AlphaFold2 pLDDT	RoseTTA B-factor
COL18A1NM_030582E184K	Missense Mutation	1493	54.7036_53.4623_52.549_52.1834_51.3719	8.2914_8.3007_8.3055_8.3056_8.3232
COL18A1NM_030582WT	Wildtype	1493	54.0305_52.9009_51.9666_51.6692_51.5619	8.2718_8.2775_8.3128_8.3144_8.3173