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Fig. 2 | BMC Genomics

Fig. 2

From: Novel and known variants in GJA3 and LIM2 in congenital cataract families from North India

Fig. 2

A Electropherograms of a part of the forward strand sequence of exon 1 of GJA3 in an unaffected (IV:2) and an affected individual (IV:3) of the CC-3005 family. In the unaffected individual (IV:2) arrow indicates the wild-base T at c.764 bp position whereas in the affected individuals (IV:3 and IV:5) arrow indicates the nucleotide position at which deletion of base T occurred that resulted in c.764delT (p.L255R46fs). B The membrane topological structure of GJA3 was generated by TOPO2 software. The L255 (indicated by a purple dot) is localized in the cytoplasmic domain

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