Functional and Structural Features of Disease-Related Protein Variants.
disease-related Pfam domains
disease-related protein variations
disease-related reactome pathways
genetic variations
polar solvent accessible surface
protein structure
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
27 Mar 2019
27 Mar 2019
Historique:
received:
08
02
2019
revised:
22
03
2019
accepted:
22
03
2019
entrez:
3
4
2019
pubmed:
3
4
2019
medline:
17
7
2019
Statut:
epublish
Résumé
Modern sequencing technologies provide an unprecedented amount of data of single-nucleotide variations occurring in coding regions and leading to changes in the expressed protein sequences. A significant fraction of these single-residue variations is linked to disease onset and collected in public databases. In recent years, many scientific studies have been focusing on the dissection of salient features of disease-related variations from different perspectives. In this work, we complement previous analyses by updating a dataset of disease-related variations occurring in proteins with 3D structure. Within this dataset, we describe functional and structural features that can be of interest for characterizing disease-related variations, including major chemico-physical properties, the strength of association to disease of variation types, their effect on protein stability, their location on the protein structure, and their distribution in Pfam structural/functional protein models. Our results support previous findings obtained in different data sets and introduce Pfam models as possible fingerprints of patterns of disease related single-nucleotide variations.
Identifiants
pubmed: 30934684
pii: ijms20071530
doi: 10.3390/ijms20071530
pmc: PMC6479756
pii:
doi:
Substances chimiques
Mutant Proteins
0
Solvents
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
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