CRISPR/Cas9 technology generated non-synonymous serine to alanine conversions at residues 83 and 85. These changes disrupt phosphorylation at these sites. (J:340225)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count