Mutation details:

Protein level identifier (NP_940980):

Arg1441His

cDNA level identifier (NM_198578):

c.4322G>A

Gene level identifier:

g.113692G>A

Archive identifier/Other designation:

R1441H

Reference, alternative allele:

G, A

Genomic location hg(19)

12:40704237 (not available on ExAC)

Gene name:

LRRK2

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

26

Phosphorylation activity:

0,97 ± 0,49 (not activating)

Positive functional evidence:

24591621; 25009464; 27423549;

Number of all included cases:

19 heterozygous (19 in total).