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The effectiveness of therapeutic strategies depends on the specific protein involved, being crucial to accurately determine its nature. Moreover, following the diagnosis, the search for the mutation within relatives allows the clinical advice. Here we report the precise diagnosis and explored the possible reasons of the structural pathogenicity for a renal amyloidosis related to a fibrinogen A\u03b1\u2010chain variant. Whole\u2010exome sequencing and GATK calling pipeline were leveraged to characterize the protein variant present in a patient with kidney failure. Bioinformatics strategies were applied to suggest potential explanations of the variants aggregation. Our pipeline allowed the identification of a single\u2010point variant of fibrinogen A\u03b1\u2010chain, which opened the possibility of curative transplantation. In silico structural analysis suggested that the pathogenicity of the variant may be attributed to a heightened susceptibility to yield a peptide prone to deposit as an oligomer with a \u03b2\u2010sheet structure. Exploiting the comprehensive coverage of whole\u2010genome sequencing, we managed to fill a vacant stage in the diagnosis of hereditary amyloidosis and to stimulate the advancement in biomedicine.<\/jats:p>","DOI":"10.1002\/prot.26732","type":"journal-article","created":{"date-parts":[[2024,7,19]],"date-time":"2024-07-19T22:19:27Z","timestamp":1721427567000},"page":"1366-1374","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Hereditary Amyloidosis: Insights Into a Fibrinogen A Variant Protein"],"prefix":"10.1002","volume":"92","author":[{"given":"Elizabeth R.","family":"Cattaneo","sequence":"first","affiliation":[{"name":"Facultad de Ciencias M\u00e9dicas, Departamento de Medicina Interna Instituto de Investigaciones Bioqu\u00edmicas de La Plata (INIBIOLP), CONICET, Universidad Nacional de La Plata  Buenos Aires Argentina"},{"name":"Facultad de Ciencias M\u00e9dicas, Departamento de Medicina Interna Universidad Nacional de La Plata  La Plata Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Romina A.","family":"Gisonno","sequence":"additional","affiliation":[{"name":"Departamento de Medicina Interna Institute of Science and Technology Austria  Klosterneuburg Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mart\u00edn C.","family":"Abba","sequence":"additional","affiliation":[{"name":"Facultad de Ciencias M\u00e9dicas, Departamento de Medicina Interna Instituto de Investigaciones Bioqu\u00edmicas de La Plata (INIBIOLP), CONICET, Universidad Nacional de La Plata  Buenos Aires Argentina"},{"name":"Facultad de Ciencias M\u00e9dicas, Departamento de Medicina Interna Centro de Investigaciones Inmunol\u00f3gicas B\u00e1sicas y Aplicadas (CINIBA), Universidad Nacional de La Plata  La Plata Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianela","family":"Santana","sequence":"additional","affiliation":[{"name":"Facultad de Ciencias M\u00e9dicas, Departamento de Medicina Interna Instituto de Investigaciones Bioqu\u00edmicas de La Plata (INIBIOLP), CONICET, Universidad Nacional de La Plata  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvana A.","family":"Ros\u00fa","sequence":"additional","affiliation":[{"name":"Facultad de Ciencias M\u00e9dicas, Departamento de Medicina Interna Instituto de Investigaciones Bioqu\u00edmicas de La Plata (INIBIOLP), CONICET, Universidad Nacional de La Plata  Buenos Aires Argentina"},{"name":"Facultad de Ciencias M\u00e9dicas, Departamento de Medicina Interna Universidad Nacional de La Plata  La Plata Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elsa","family":"Nucifora","sequence":"additional","affiliation":[{"name":"Departamento de Medicina Interna, Hospital Italiano de Buenos Aires (HIBA)  Calle Per\u00f3n Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda A.","family":"Aguirre","sequence":"additional","affiliation":[{"name":"Departamento de Medicina Interna, Hospital Italiano de Buenos Aires (HIBA)  Calle Per\u00f3n Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda C.","family":"Giordani","sequence":"additional","affiliation":[{"name":"Departamento de Medicina Interna, Hospital Italiano de Buenos Aires (HIBA)  Calle Per\u00f3n Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. 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