{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["11"],"submitter":["Vitale AM"],"funding":["Ministero dello Sviluppo Economico"],"pubmed_abstract":["Two chaperonopathies have been linked to mutations in the human <i>hsp60</i> (<i>hHsp60</i>; <i>HSPD1</i>) gene, but other existing variants might cause diseases, even if there is no comprehensive information about this possibility. To fill this vacuum, which might be at the basis of misdiagnoses or simply ignorance of chaperonopathies in patients who would benefit by proper identification of their ailments, we searched the sequenced human genomes available in public databases to determine the range of missense mutations in the single <i>hsp60</i> gene. A total of 224 missense mutations were identified, including those already characterized. Detailed examination of these mutations was carried out to assess their possible impact on protein structure-function, considering: (a) the properties"],"journal":["Frontiers in genetics"],"pagination":["969"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7461820"],"repository":["biostudies-literature"],"pubmed_title":["Missense Mutations of Human Hsp60: A Computational Analysis to Unveil Their Pathological Significance."],"pmcid":["PMC7461820"],"pubmed_authors":["Alessandro R","Vitale AM","Marino Gammazza A","Conway de Macario E","Cappello F","Macario AJL"],"additional_accession":[]},"is_claimable":false,"name":"Missense Mutations of Human Hsp60: A Computational Analysis to Unveil Their Pathological Significance.","description":"Two chaperonopathies have been linked to mutations in the human <i>hsp60</i> (<i>hHsp60</i>; <i>HSPD1</i>) gene, but other existing variants might cause diseases, even if there is no comprehensive information about this possibility. To fill this vacuum, which might be at the basis of misdiagnoses or simply ignorance of chaperonopathies in patients who would benefit by proper identification of their ailments, we searched the sequenced human genomes available in public databases to determine the range of missense mutations in the single <i>hsp60</i> gene. A total of 224 missense mutations were identified, including those already characterized. Detailed examination of these mutations was carried out to assess their possible impact on protein structure-function, considering: (a) the properties","dates":{"release":"2020-01-01T00:00:00Z","publication":"2020","modification":"2026-04-07T21:45:09.25Z","creation":"2021-02-19T22:05:21Z"},"accession":"S-EPMC7461820","cross_references":{"pubmed":["33014020"],"doi":["10.3389/fgene.2020.00969"]}}