Mutation details:

Protein level identifier (NP_940980):

Tyr1699Cys

cDNA level identifier (NM_198578):

c.5096A>G

Gene level identifier:

g.124371A>G

Archive identifier/Other designation:

Y1699C

Reference, alternative allele:

A, G

Genomic location hg(19)

12:40714916 (not available on ExAC)

Gene name:

LRRK2

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

28

Phosphorylation activity:

6,67 ± 2,36 (strongly activating)

Positive functional evidence:

17447891; 18675914; 19625296; 21073465; 21390248; 21454543; 22004453; 23924436; 25316291; 25939886; 26251043;

Number of all included cases:

17 heterozygous (17 in total).