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

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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Bibliographic Details
Main Authors: Cheng-Shoong Chong, Markus Kunze, Bernhard Hochreiter, Martin Krenn, Johannes Berger, Sebastian Maurer-Stroh
Format: Article
Language:English
Published: MDPI AG 2019-09-01
Series:International Journal of Molecular Sciences
Subjects:
peroxisomal targeting signal 1
PEX5
peroxisome
protein transport
missense variant
mistargeting
gnomAD
disease
Online Access:https://www.mdpi.com/1422-0067/20/18/4609

Internet

https://www.mdpi.com/1422-0067/20/18/4609

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