Article

Spherocytosis-related L1340P mutation in ankyrin affects its interactions with spectrin

2022-11-21

Abstract excerpt

Previously, we reported a new missense mutation in the ANK1 gene correlated with the HS phenotype. This mutation, resulting in L1340P substitution (HGMD CM149731), likely leads to the changes in the conformation of the ankyrin ZZUD domain important for ankyrin binding to spectrin. In this report, we have shown the molecular and physiological effects of this mutation. First, we assessed the binding activity of hum...

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Literature Corpus work: 55c8d675-1af7-5544-867c-bd2fc01dac1b
DOI: 10.1101/2022.11.21.517333

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