CRISPR/Cas9 technology generated a lysine to arginine substitution at amino acid 49 (p.K49R). The K49R mutation preserves the positive charge but eliminates acetylation at the site. (J:338968)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count