Fig. 1
From: USH2A gene variants cause Keratoconus and Usher syndrome phenotypes in Pakistani families
Family pedigrees, genotypes, and USH2A variants. (i) a. KC Family and (ii) a. USH2 family. In pedigrees, squares symbolize males and circles symbolize females. All filled circles and squares symbolize affected members, whereas clear circles and squares symbolize unaffected members. In addition, pedigrees affected by USH2A variants showing segregation of the altered alleles. (i) and (ii) b. Sequence chromatograms showing wild type and USH2A [c.4029T > G, p.Asn1343Lys (KC family), and, c.7334 C > T, p. Ser2445Phe (USH2 family)] variants. (i) and (ii) c. Multiple alignments of the partial amino acid sequences of USH2A in a variety of vertebrate and non-vertebrate species, show stringent conservation of Asparagine at position 1343 and Serine at position 2445