Rare Human Missense Variants can affect the Function of Disease-Relevant Proteins by Loss and Gain of Peroxisomal Targeting Motifs

Single nucleotide variants (SNVs) resulting in amino acid substitutions (i.e., missense variants) can affect protein localization by changing or creating new targeting signals. Here, we studied the potential of naturally occurring SNVs from the Genome Aggregation Database (gnomAD) to result in the l...

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Detalles Bibliográficos
Autores principales: Chong, Cheng-Shoong, Kunze, Markus, Hochreiter, Bernhard, Krenn, Martin, Berger, Johannes, Maurer-Stroh, Sebastian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6770196/
https://www.ncbi.nlm.nih.gov/pubmed/31533369
http://dx.doi.org/10.3390/ijms20184609

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6770196/
https://www.ncbi.nlm.nih.gov/pubmed/31533369
http://dx.doi.org/10.3390/ijms20184609

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