Table 5.

Notable PRKN Pathogenic Variants

Reference SequencesDNA Nucleotide Change (Alias 1)Predicted Protein ChangeComment [Reference]
NM_004562​.2
NP_004553​.2 		c.155delAp.Asn52MetfsTer29The most common pathogenic variants [Kasten et al 2018]
c.337_376del (438-477del)p.Pro113ThrfsTer51
c.823C>T (924C>T)p.Arg275Trp
c.(7+1_8-1)_(171+1_172-1)del
[Deletion of exons 2 & 3]
c.(171+1_172-1)_(412+1_413-1)del
[Deletion of exon 3]
c.(171+1_172-1)_(534+1_534-1)del
[Deletion of exons 3 & 4]
c.(412+1_413-1)_(534+1_534-1)del
[Deletion of exon 4]

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen.hgvs.org). See Quick Reference for an explanation of nomenclature.

1.

Variant designation that does not conform to current naming conventions

From: Parkin Type of Early-Onset Parkinson Disease

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