Figure 1. Pedigrees of families with autosomal dominant cone dystrophy (adCOD) or macular dystrophy (adMD) and with the novel mutations in GUCA1A identified in this study. A: Filled symbols indicate affected family members; squares: males; circles: females; arrows: index patients. Family MTP434 with the c.302_304delTAG (p.Val101del) mutation. Family MTP1560 with the c.444T>A (p.Asp148Glu) mutation. B: Electropherograms show the normal control and affected sequences (index individuals III:2 and II:1) surrounding the c.302_304delTAG and c.444T>A mutations. C: Multiple amino acid sequence alignment of GCAP1 for a region surrounding the novel p.Val101del and the p.Asp148Glu mutations. The site of the mutation is indicated by an arrow. The 12-amino-acid loop of the EF3- and EF4-hand domains of the protein are underlined and the 12 referenced mutations within or flanking the loops are indicated with a star (*; Y99C, D100G, D100E, D102H, N104K, I107T, T114I, I143NT, L151F, E155G, E155A, G159V).