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Table 3. Selected LRRK2 Pathologic Allelic Variants

DNA Nucleotide ChangeProtein Amino Acid ChangeReference Sequence
c.4309A>Cp.Asn1437His 1NM_198578​.3
NP_940980​.3
c.4322G>Ap.Arg1441His 2
c.4321C>Tp.Arg1441Cys
c.4321C>Gp.Arg1441Gly
c.4883G>C p.Arg1628Pro 3
c.5096A>Gp.Tyr1699Cys
c.6055G>Ap.Gly2019Ser
c.6059T>Cp.Ile2020Thr
c.7153G>Ap.Gly2385Arg 3

Note on variant classification: Variants listed in the table have been provided by the author(s). GeneReviews staff have not independently verified the classification of variants.

Note on nomenclature: GeneReviews follows the standard naming conventions of the Human Genome Variation Society (www​.hgvs.org). See Quick Reference for an explanation of nomenclature.

1. Aasly et al [2010]

2. Ross et al [2009]

3. Less penetrant pathogenic variants (twofold risk) specific to Asian communities which are also common; >1% in the healthy population

From: LRRK2-Related Parkinson Disease

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