Article

A unified ensemble-allosteric framework reconciles gain- and loss-of-function disease mutations in the IP <sub>3</sub> receptor

2026-05-24

Abstract excerpt

Missense mutations in multidomain signalling proteins often produce divergent functional phenotypes despite preserved structural integrity, posing a fundamental challenge for interpreting human genetic variation. This problem is exemplified by the type 1 inositol 1,4,5-trisphosphate receptor, IP 3 R1, the principal neuronal IP 3 -gated Ca 2+ release channel and a recurrent locus of pathogenic variation in ITPR...

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Literature Corpus work: 2509c039-c3ba-5c16-bdc3-7df1bbc8df64
DOI: 10.64898/2026.05.22.727127

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