CRISPR-targeting introduced the point mutation AGT (Ser) to GCT (Ala) responsible for the amino acid substitution of serine with alanine at position 388 (S388A). (J:82809)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count