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Article

In silico analysis of missense SNPs in APPL1 gene: implications on APPL1-AKT2 complex and its relation to MODY 14.

Journal of biomolecular structure & dynamics - 1 Jun 2026

Slaoui Kenza, Hami Hinde, Redouane Salaheddine, Charoute Hicham, El Khair Kenza, Soulaymani Abdelmajid, Barakat Abdelhamid

Abstract excerpt

Maturity-Onset Diabetes of the Young type 14 (MODY14) is a rare monogenic diabetes linked to APPL1 variants that impair insulin signaling. This study evaluated how missense substitutions in the APPL1 PTB domain affect its interaction with the AKT2 catalytic domain, a key step in glucose regulation. Among 475 APPL1 missense SNPs, four conserved variants (R526C, H535R, S543W, G585R) were prioritized using...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41307241
DOI: 10.1080/07391102.2025.2593547

Genes

APPL1
AKT2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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