Fig. 4
From: Novel and known variants in GJA3 and LIM2 in congenital cataract families from North India
A Electropherograms of a part of the reverse strand sequence of exon 1 of GJA3 in the unaffected individual (IV:7) and affected individual (IV:5) of the CC-281 family. In the unaffected individual (IV:7) arrow indicates wild-type base C, whereas in the affected individuals (III:7, IV:5, and IV:6) arrow indicates the nucleotide at which heterozygous change (CT) occurred that resulted in c.263C > T (p.P88L). B Multiple amino acid sequence alignment (NCBI HomoloGene) of GJA3 indicating conservation of proline [P] (shown in pink) at position 88 as indicated by an arrow in different species. Mutant sequence (Homo sapiens [mutant]) (replacement of proline [P] by leucine [L] at 88 position) in the affected members of the present analyzed CC-281 family is highlighted in purple color. C Proline at position 88 (indicated by pink) is highly conserved in different human gap junction (connexins) proteins as well. D The membrane topological structure of GJA3 generated by TOPO2 software indicated that mutation p.P88L (indicated by a purple dot) is localized in the second transmembrane domain. E 3-D structure of GJA3 drawn using swiss-pdb software, indicated mutant leucine is bigger in size as compared to the wild-type proline