Fig. 9
From: Novel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy: a case report
a Electropherograms showing the c.1772C > A heterozygous mutation in the patients (IV-7, IV-8 and III-2) and the absence of the mutation in the unaffected individual (IV-1, IV-3). Arrows indicate the region of the mutation. b Orthologous protein sequence alignment of TGFBI from different species. The mutated residue demonstrating conservation of serine (S) at codon 591 is indicated by the arrow. TGFBI and transforming growth factor β induced atypical corneal dystrophy. (https://www.ensembl.org/Homo_sapiens/Tools/Blast)