EyeProdb

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

By gene

By phenotype

Gene : TULP1

OMIM : 602280

UniProt : O00294

AmiGO : O00294

Phenotype : Leber congenital amaurosis 15 Retinitis pigmentosa 14

Predicted PDB	WT/mutant	Sequence length	AlphaFold2 pLDDT	RoseTTA B-factor
TULP1NM_003322K489R	Missense Mutation	542	64.9378_64.0787_61.1362_60.8145_59.9287	7.961_7.9621_7.9638_7.9673_7.9676
TULP1NM_003322R420P	Missense Mutation	542	65.7234_63.5596_61.0758_60.4844_60.0736	8.0319_8.0319_8.0319_8.0318_8.032
TULP1NM_003322WT	Wildtype	542	65.8301_63.5364_61.0309_60.8945_59.682	8.0318_8.0319_8.0319_8.032_8.032