CRISPR-targeting altered the sequence from AT to CC within exon 2 in order to introduce an alanine for aspartic acid at position 88 (D88A) amino acid substitution. A silent G to C mutation was also introduced to destroy the PAM sequence. (J:272519)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count