Mutation details:

Protein level identifier (NP_940980):

Arg1441Gly

cDNA level identifier (NM_198578):

c.4321C>G

Gene level identifier:

g.113691C>G

Archive identifier/Other designation:

R1441G

Reference, alternative allele:

C, G

Genomic location hg(19)

12:40704236 (not available on ExAC)

Gene name:

LRRK2

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

29

Phosphorylation activity:

3,92 ± 0,98 (strongly activating)

Positive functional evidence:

19503083; 20642453; 21390248; 21712955; 22004453; 22342962; 22850484; 23125283; 23241745; 23318930; 23600457; 23721786; 23936174; 23937259; 24275654; 24357540; 24360742; 24427314; 24652679; 24733019; 25263790; 25301747; 25356398; 25804954; 25939886; 26020005; 26192625; 26355680; 26546614; 27013965; 27111571; 27474410; 27863501; 28098219;

Number of all included cases:

34 heterozygous (34 in total).