EyeProdb

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

By gene

By phenotype

Gene : TPP1

OMIM : 607998

UniProt : O14773

AmiGO : O14773

Phenotype : Ceroid lipofuscinosis, neuronal, 2 Spinocerebellar ataxia, autosomal recessive 7

Predicted PDB	WT/mutant	Sequence length	AlphaFold2 pLDDT	RoseTTA B-factor
TPP1C365N	Missense Mutation	368	95.8856_94.7209_93.3451_93.2013_92.2049	7.3708_8.0079_8.0158_8.0164_8.0189
TPP1R447H	Missense Mutation	368	95.0754_94.72_94.2548_93.2116_93.1199	7.2462_7.5228_7.5228_7.5234_7.5239
TPP1WT	Wildtype	368	95.9976_95.1945_93.8499_93.6706_92.837	7.2521_7.5224_7.5229_7.5228_7.5237