EyeProdb

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

By gene

By phenotype

Gene : IFT172

OMIM : 607386

UniProt : Q9UG01

AmiGO : Q9UG01

Phenotype : Bardet-Biedl syndrome 20 Retinitis pigmentosa 71 Short-rib thoracic dysplasia 10 with or without polydactyly

Predicted PDB	WT/mutant	Sequence length	AlphaFold2 pLDDT	RoseTTA B-factor
IFT172D1605E	Missense Mutation	1749	84.5357_82.6171_81.191_80.5529_80.5032	8.0869_8.0933_8.0935_8.0945_8.0943
IFT172H1567Q	Missense Mutation	1749	84.6276_82.8802_82.095_81.0818_80.4716	8.0862_8.0901_8.0913_8.0969_8.0979
IFT172L257P	Missense Mutation	1749	84.6634_83.253_81.7654_81.2163_80.2551	8.0848_8.0902_8.0908_8.092_8.0941
IFT172WT	Wildtype	1749	84.419_83.0339_81.3996_80.883_80.1762	8.0816_8.0898_8.0912_8.0911_8.0964