EyeProdb

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

By gene

By phenotype

Gene : ATOH7

OMIM : 609875

UniProt : Q8N100

AmiGO : Q8N100

Phenotype : Persistent hyperplastic primary vitreous, autosomal recessive

Predicted PDB	WT/mutant	Sequence length	AlphaFold2 pLDDT	RoseTTA B-factor
ATOH7E49V	Missense Mutation	152	71.5934_71.5656_70.9016_69.9947_69.0769	7.956_7.9484_7.946_7.945_7.9606
ATOH7N46H	Missense Mutation	152	72.0638_71.5463_71.084_69.3067_68.69	8.0223_8.035_8.0282_8.0276_8.0248
ATOH7WT	Wildtype	152	71.6929_71.6751_70.7996_69.5876_68.6145	7.9492_7.9514_7.9594_7.9643_7.9736