Fig. 2.

Reference maps of predicted human α₂δ-3 and α₂δ-4 neuronal disease mutations and SNPs. Models of CACNA2D3 and CACNA2D4 genes (upper panels in a and b) and protein structures (lower panels in a and b), including exon positions (light blue) and protein domains, are based on Ensembl and UniProt databases (ENST00000288197.9/Q8IZS8; ENST00000382722.10/Q7Z3S7). Previously published potentially disease-associated SNPs and disease mutations are indicated (see text for references). Large genomic deletions of CACNA2D4 (b) including an inactive cache domain have been linked to ASD (violet bars) and BPD (green bars). α₂δ-4 protein mutations are so far only known to cause night blindness (NB) and gliomas (not indicated). ASD (violet), autism spectrum disorders; BPD (green), bipolar disorder; CA (blue), cerebellar atrophy; EE (blue), epileptic encephalopathy; MDD (red), major depressive disorder; NB (gray), night blindness; ND (nude), nicotine dependence; P (bordeaux), pain; SCZ (magenta), schizophrenia