Affordable Access

deepdyve-link
Publisher Website

Investigating the Effects of Amino Acid Variations in Human Menin.

Authors
  • Biancaniello, Carmen1
  • D'Argenio, Antonia2
  • Giordano, Deborah2
  • Dotolo, Serena1
  • Scafuri, Bernardina3
  • Marabotti, Anna3
  • d'Acierno, Antonio2
  • Tagliaferri, Roberto1
  • Facchiano, Angelo2
  • 1 Dipartimento di Scienze Aziendali, Management and Innovation Systems, Università degli Studi di Salerno, 84084 Fisciano, Italy. , (Italy)
  • 2 National Research Council, Institute of Food Science, 83100 Avellino, Italy. , (Italy)
  • 3 Dipartimento di Chimica e Biologia "A. Zambelli", Università degli Studi di Salerno, 84084 Fisciano, Italy. , (Italy)
Type
Published Article
Journal
Molecules
Publisher
MDPI AG
Publication Date
Mar 07, 2022
Volume
27
Issue
5
Identifiers
DOI: 10.3390/molecules27051747
PMID: 35268848
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

Human menin is a nuclear protein that participates in many cellular processes, as transcriptional regulation, DNA damage repair, cell signaling, cell division, proliferation, and migration, by interacting with many other proteins. Mutations of the gene encoding menin cause multiple endocrine neoplasia type 1 (MEN1), a rare autosomal dominant disorder associated with tumors of the endocrine glands. In order to characterize the structural and functional effects at protein level of the hundreds of missense variations, we investigated by computational methods the wild-type menin and more than 200 variants, predicting the amino acid variations that change secondary structure, solvent accessibility, salt-bridge and H-bond interactions, protein thermostability, and altering the capability to bind known protein interactors. The structural analyses are freely accessible online by means of a web interface that integrates also a 3D visualization of the structure of the wild-type and variant proteins. The results of the study offer insight into the effects of the amino acid variations in view of a more complete understanding of their pathological role.

Report this publication

Statistics

Seen <100 times