CRISPR targeting converted the AAG to GCG resulting in the amino acid substitution of lysine with an alanine at position 374 (K374A). A silent mutation was inserted upstream of the altered codon to produce an Mspl restriction enzyme site. (J:305668)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count