CRISPR-targeting altered the sequence in exon 2 to achieve the amino acid substitution of aspartic acid with alanine at position 488 (D488A). The protein product is predicted to be resistant to cleavage. (J:297419)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count