EyeProdb

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

By gene

By phenotype

Gene : RPGRIP1

OMIM : 605446

UniProt : Q96KN7

AmiGO : Q96KN7

Phenotype : Cone-rod dystrophy 13 Leber congenital amaurosis 6

Predicted PDB	WT/mutant	Sequence length	AlphaFold2 pLDDT	RoseTTA B-factor
RPGRIP1NM_020366D1114G	Missense Mutation	1286	67.2004_67.0373_66.5074_66.0708_65.4706	8.0684_8.0689_8.0695_8.0696_8.0696
RPGRIP1NM_020366V1211E	Missense Mutation	1286	67.4869_66.9473_66.0543_65.9811_65.8822	8.0678_8.069_8.0696_8.0695_8.0696
RPGRIP1NM_020366WT	Wildtype	1286	66.9062_66.2756_66.2385_65.9022_65.8486	8.0682_8.0689_8.0689_8.0695_8.0696