Mutation details:

Protein level identifier (NP_009193):

p.Glu163Lys

cDNA level identifier (NM_007262):

c.487G>A

Gene level identifier:

g.30681G>A

Archive identifier/Other designation:

rs74315354

Reference, alternative allele:

G, A

Genomic location hg(19)

1:8045031

Gene name:

DJ1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

24

Phosphorylation activity:

Positive functional evidence:

18181649; 18822273;

Number of all included cases:

2 homozygous (2 in total).