CRISPR/Cas9 technology generated an AAG to GCA change resulting in a lysine to alanine mutation at amino acid 525 (K525A). This mutation abolishes ATP-dependent helicase activity. (J:277473)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count