EyeProdb

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

By gene

By phenotype

Gene : USH1C

OMIM : 605242

UniProt : Q9Y6N9

AmiGO : Q9Y6N9

Phenotype : Deafness, autosomal recessive 18A Usher syndrome, type 1C

Predicted PDB	WT/mutant	Sequence length	AlphaFold2 pLDDT	RoseTTA B-factor
USH1Cc.1220delG	Frameshift Mutation	463	76.9718_76.599_75.9833_73.8955_73.6636	8.0289_8.0287_8.0287_8.0287_8.0287
USH1CR103H	Missense Mutation	552	77.7354_76.9183_76.8322_76.2014_74.6563	6.6669_8.0416_8.0416_8.0417_8.0417
USH1CWT	Wildtype	552	78.1038_77.2239_76.8819_76.3776_75.8319	6.7346_8.0415_8.0416_8.0415_8.0416