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. 2018 Jun 27;27(19):3340–3352. doi: 10.1093/hmg/ddy238

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Figure 4. — An Frmd4b variant was identified as the modifier that rescues rd7-associated photoreceptor dysplasia. (A) Sequencing traces around the Tvrm222 variation in the Frmd4b gene. The arrow indicates the transversion of thymine to cytosine (B) Alignment of human, rat and mouse FRMD4B sequences around the Tvrm222 variation. Note the proline (marked by an arrow) in human and rat reference sequences is substituted by a serine in mice. The Tvrm222 variation causes a replacement of the serine with proline.