Evaluating LRRK2 Genetic Variants with Unclear Pathogenicity

Table 1

LRRK2 ¹ mutations and associated clinical features.

Protein domain	Nucleotide change	Amino acid change	Number of patients	Number of controls	Reported clinical features	Source of information
Leucine-rich repeat (LRR)	3494T>C	L1165P	1	0	Age of onset around 47 years. Slow progressive disease with typical PD symptoms that respond well to levodopa therapy	Chen-Plotkin et al., 2008 [13]; Covy et al., 2009 [14]
Ras of complex proteins (ROC)	4229C>T	T1410M	19	11	Middle-age to late onset of disease, displaying typical symptoms of PD and a good response to levodopa therapy	Ross et al., 2011 [15]; Lesage et al., 2009 [16]; Abdalla-Carvalho et al., 2010 [17]
C-terminal of ROC (COR)	4937T>C	M1646T	4	2	Typical PD	Jasinska-Myga et al., 2010 [18]; Ross et al., 2011 [15]
MAP kinase kinase kinase (MAPKKK)	6187_6191delCTCTA	L2063X	1	2	Typical PD	Ross et al., 2011 [15]
WD40 repeat (WD40)	6566A>G	Y2189C	14	8	Middle-age to late onset of disease, showing characteristic PD symptoms with a positive response to levodopa therapy	Abdalla-Carvalho et al., 2010 [17]; Nuytemans et al., 2008 [19]; Jasinska-Myga et al., 2010 [18]; Ross et al., 2011 [15]

GenBank: BC117180.1.