CRISPR-targeting of exon 16 introduced point mutations responsible for the amino acid substitutions of histidine with asparagine at position 641 (H641N) and serine with proline at position 642 (S642P). These mutations block TACE cleavage (J:330826)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count