Fig. 3
From: Novel and known variants in GJA3 and LIM2 in congenital cataract families from North India
A Electropherograms of a part of the forward strand sequence of exon 4 of LIM2 in an unaffected individual (II:3) and in the affected individual (III:2) of the CC-3015 family. In the unaffected individual (II:3) arrow indicates the position of wild-type base C, whereas in the affected individuals (II:2 and III:2) arrow indicates the nucleotide at which heterozygous change (CT) occurred that resulted in c.388C > T (p.R130C). B Multiple amino acid sequence alignment (NCBI HomoloGene) of LIM2 indicating conservation of arginine [R] (shown in pink) at position 130 as indicated by an arrow in different species. The mutant sequence (Homo sapiens [mutant]) (replacement of arginine [R] by cysteine [C] at 130 position) in the affected members is highlighted in purple color. C The membrane topological structure of LIM2 generated by TOPO2 software indicated that the mutation p.R130C (indicated by a purple dot) is located in the extracellular loop 2 (EL2). D 3-D structure of LIM2 drawn using swiss-pdb software, indicated wild-type arginine to be bigger in size as compared to the mutant cysteine