CRISPR/Cas9 technology generated a TC to CG change resulting in an isoleucine to threonine substitution at residue 390 (p.I390T). This corresponds to a common human M393T variant associated with increased risk of developing Parkinson's disease. (J:304120)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count