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The Q422R mutation, which involves a glutamine to arginine substitution at the last amino acid position of PAX6, caused a reduction in the interaction with HOMER3 and DNCL1. The X423L and 1615del10 mutations severely reduced or completely abolished the interaction with HOMER3 and DNCL1. The predicted effect of the X423L and 1615del10 mutations is to cause translation into the 3' untranslated region, thus generating proteins with abnormal extensions that might be expected to disrupt the conformation of the C-terminal end of the protein. The 1615del10 mutation also removes the last 5 amino acids of the C-terminal peptide [28]."}

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{"project":"craft-ca-core-dev","denotations":[{"id":"T4730","span":{"begin":64,"end":70},"obj":"PR:000008680"},{"id":"T4729","span":{"begin":53,"end":59},"obj":"SO:0000417"},{"id":"T4740","span":{"begin":565,"end":575},"obj":"GO:0006412"},{"id":"T4739","span":{"begin":560,"end":582},"obj":"SO:0000205"},{"id":"T4738","span":{"begin":539,"end":550},"obj":"GO:0006412"},{"id":"T4737","span":{"begin":462,"end":467},"obj":"PR:000002325"},{"id":"T4736","span":{"begin":451,"end":457},"obj":"PR:000008680"},{"id":"T4735","span":{"begin":348,"end":353},"obj":"PR:000002325"},{"id":"T4734","span":{"begin":337,"end":343},"obj":"PR:000008680"},{"id":"T4733","span":{"begin":288,"end":292},"obj":"PR:000012318"},{"id":"T4732","span":{"begin":156,"end":160},"obj":"PR:000012318"},{"id":"T4731","span":{"begin":74,"end":79},"obj":"PR:000002325"}],"text":"We demonstrated that the interaction between the PST domain and HOMER3 or DNCL1 was impaired by three naturally occurring mutations that are located in the PAX6 C-terminal peptide. The Q422R mutation, which involves a glutamine to arginine substitution at the last amino acid position of PAX6, caused a reduction in the interaction with HOMER3 and DNCL1. The X423L and 1615del10 mutations severely reduced or completely abolished the interaction with HOMER3 and DNCL1. The predicted effect of the X423L and 1615del10 mutations is to cause translation into the 3' untranslated region, thus generating proteins with abnormal extensions that might be expected to disrupt the conformation of the C-terminal end of the protein. The 1615del10 mutation also removes the last 5 amino acids of the C-terminal peptide [28]."}