EyeProdb

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

By gene

By phenotype

Gene : SOX10

OMIM : 602229

UniProt : P56693

AmiGO : P56693

Phenotype : PCWH syndrome Waardenburg syndrome, type 2E, with or without neurologic involvement Waardenburg syndrome, type 4C

Predicted PDB	WT/mutant	Sequence length	AlphaFold2 pLDDT	RoseTTA B-factor
SOX10M112I	Missense Mutation	466	57.3572_54.685_51.7319_50.7538_50.3452	8.0426_8.0427_8.0427_8.0427_8.0426
SOX10Q174P	Missense Mutation	466	57.8197_53.8592_51.4172_51.1991_50.7715	8.0426_8.0426_8.0427_8.0427_8.0427
SOX10WT	Wildtype	466	56.5789_53.5128_52.9019_51.8722_51.1468	9.4736_9.4815_9.7094_9.7515_9.8454