Channeling Vision: Ca_V1.4—A Critical Link in Retinal Signal Transmission

Figure 4

CSNB2A-causing mutations in CACNA1F, and their locations in the subunit (Isoform 1, NCBI Reference Sequences: NM_005183.3 (mRNA), NP_005174.2 (Protein), UNIPROT Identifier: O60840-1) (nomenclature of mutations differs between laboratories, as groups have used two distinct protein isoforms of different lengths (due to an 11 amino-acid difference in exon 9 beginning at residue 426). Consequently, mutations occurring after amino-acid 426 may be differentially annotated between publications (ex. R1827X [36] versus R1816X [37]). Readers should be aware of this discrepancy between publications, and authors should clearly indicate the particular isoform used when annotating mutations). Compiled from Zeitz et al. [38] and Hove et al. [39]. AID: alpha-interaction domain; CTM: C-terminal modulator/inhibitor of calcium-dependent inactivation. Mutations specifically addressed in the text are highlighted. topographical visualization generated with Protter [40].