Protein molecular modeling shows residue T599 is critical to wild-type function of POLG and description of a novel variant associated with the SANDO phenotype

Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) is a rare phenotype resulting from pathogenic variants of mitochondrial DNA polymerase gamma (POLG). We modeled a novel POLG variant, T599P, that causes the SANDO phenotype and another variant at the same residue, p.T599E, to obs...

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Detalles Bibliográficos
Autores principales: Richter, John E, Robles, Hector G, Mauricio, Elizabeth, Mohammad, Ahmed, Atwal, Paldeep S, Caulfield, Thomas R
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5885040/
https://www.ncbi.nlm.nih.gov/pubmed/29644085
http://dx.doi.org/10.1038/hgv.2018.16

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5885040/
https://www.ncbi.nlm.nih.gov/pubmed/29644085
http://dx.doi.org/10.1038/hgv.2018.16

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