EyeProdb

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

By gene

By phenotype

Gene : CACNA1F

OMIM : 300110

UniProt : O60840

AmiGO : O60840

Phenotype : Aland Island eye disease Cone-rod dystrophy, X-linked, 3 Night blindness, congenital stationary (incomplete), 2A, X-linked

Predicted PDB	WT/mutant	Sequence length	AlphaFold2 pLDDT	RoseTTA B-factor
CACNA1FNM_00518C1499R	Missense Mutation	1977	66.9223_66.1937_64.6489_63.8234_63.4416	8.1811_8.181_8.1811_8.1811_8.1811
CACNA1FNM_00518G369D	Missense Mutation	1977	67.273_66.3887_63.6149_63.0342_62.5552	7.93_7.93_7.93_7.93_7.93
CACNA1FNM_00518WT	Wildtype	1977	66.7425_66.1122_64.6178_63.2545_63.0344	7.93_7.93_7.93_7.93_7.93