Skip to main content
Fig. 5 | BMC Ophthalmology

Fig. 5

From: A novel compound heterozygous BEST1 gene mutation in two siblings causing autosomal recessive bestrophinopathy

Fig. 5

A Schematic representation of BEST1 (NM_004183.4) transcript. Grey boxes represent exons, and lines connecting them represent introns. Green boxes represent the translation start site, while red boxes represent the translation termination site. B Topological representation of BEST1 (Milenkovic et al.) representing mutation sites denoted by red circles. C Generated structural model of BEST1 wild type, E35K, and R105S. D Multiple sequence alignment of BEST1 from different species

Back to article page

BMC Ophthalmology

ISSN: 1471-2415

Contact us