Spherocytosis-Related L1340P Mutation in Ankyrin Affects Its Interactions with Spectrin

Previously, we reported a new missense mutation in the <i>ANK1</i> gene that correlated with the hereditary spherocytosis 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 bindi...

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Bibliographic Details

Main Authors:	Beata Machnicka, Aleksander Czogalla, Dżamila M. Bogusławska, Piotr Stasiak, Aleksander F. Sikorski
Format:	Artigo
Language:	Inglês
Published:	MDPI AG 2023-01-01
Series:	Life
Subjects:	erythrocyte membrane skeleton ankyrin-R spectrin spectrin-binding domain ankyrin–spectrin interaction hereditary spherocytosis
Online Access:	https://www.mdpi.com/2075-1729/13/1/151
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