Gene Ontology annotation through association of InterPro records with GO terms
Annotation inferences using phylogenetic trees
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
Electronic Gene Ontology annotations created by ARBA machine learning models
Combined Automated Annotation using Multiple IEA Methods
Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.
A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation.
X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene.
Characterization of C-terminal Splice Variants of Cav1.4 Ca2+ Channels in Human Retina.
The electroretinographic diagnosis of the incomplete form of congenital stationary night blindness.
An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.
Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.
UniProtKB reviewed entry O60840 (CAC1F_HUMAN)
A novel CACNA1F gene mutation causes Aland Island eye disease.
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Sequencing and lymphoblast transcript analysis in the original Aland Island eye disease family identified a CACNA1F deletion and loss of exon 30 from mRNA. The resulting in-frame protein deletion and altered membrane topology were predicted; direct variant electrophysiology was not reported in the available abstract.
"A novel deletion covering exon 30 and portions of flanking introns"