Using CRISPR/Cas9 technology, glycine codon 126 (GGC) was changed to a glutamic acid codon (GAA) (p.Gly126Glu). This creates a kinase-dead version of the peptide that is unable to phosphorylate its target lipids. (J:282052)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count