EyeProdb

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

By gene

By phenotype

Gene : NPHP3

OMIM : 608002

UniProt : Q7Z494

AmiGO : Q7Z494

Phenotype : Meckel syndrome 7 Nephronophthisis 3 Renal-hepatic-pancreatic dysplasia 1

Predicted PDB	WT/mutant	Sequence length	AlphaFold2 pLDDT	RoseTTA B-factor
NPHP3N386S	Missense Mutation	1329	72.0738_70.848_69.8981_68.2268_68.0448	8.0504_8.0503_8.0504_8.0504_8.0504
NPHP3R397H	Missense Mutation	1329	71.9986_70.8224_69.9989_69.5745_67.8788	7.93_7.93_7.93_7.93_7.93
NPHP3WT	Wildtype	1329	70.9612_70.8643_69.0734_68.2025_67.6996	7.93_7.93_7.93_7.93_7.93