EyeProdb

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

By gene

By phenotype

Gene : FOXC1

OMIM : 601090

UniProt : Q12948

AmiGO : Q12948

Phenotype : Anterior segment dysgenesis 3, multiple subtypes Axenfeld-Rieger syndrome, type 3

Predicted PDB	WT/mutant	Sequence length	AlphaFold2 pLDDT	RoseTTA B-factor
FOXC1F112S	Missense Mutation	553	53.1945_49.1167_48.2196_47.1658_47.1378	5.7783_8.032_8.0322_8.0322_8.0321
FOXC1M161K	Missense Mutation	553	53.6493_50.0255_49.052_47.8719_47.6722	6.2342_7.9776_7.9952_7.9979_8.0041
FOXC1S131L	Missense Mutation	553	54.0553_48.8061_47.9824_47.7999_47.2425	5.7723_8.0321_8.0321_8.0322_8.0321
FOXC1WT	Wildtype	553	53.7076_49.1708_48.5555_47.9421_46.9589	5.7565_8.0321_8.0321_8.0321_8.032