EyeProdb

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

By gene

By phenotype

Gene : CFH

OMIM : 134370

UniProt : P08603

AmiGO : P08603

Phenotype : Basal laminar drusen Complement factor H deficiency Hemolytic uremic syndrome, atypical, susceptibility to, 1 Macular degeneration, age-related, 4

Predicted PDB	WT/mutant	Sequence length	AlphaFold2 pLDDT	RoseTTA B-factor
CFHNM_00018662I-402H	Missense Mutation	1213	78.682_77.4968_76.9606_75.3019_74.1613	8.2718_8.2719_8.272_8.2721_8.2721
CFHNM_00018662V-402H	Missense Mutation	1213	78.7108_76.6108_75.0951_74.2721_72.8835	8.2717_8.2717_8.272_8.2722_8.2721
CFHNM_00018662V-402Y	Wildtype	1213	79.2898_76.9596_76.0997_74.9409_73.5632	8.1899_8.1898_8.1899_8.1898_8.1899