This mutation creates an alternative splice acceptor site 44 base pairs inside the 5'-end of exon 12, which codes for the entire zinc finger domain, causing a frameshift with a premature stop codon. As a result, the mutant protein contains the first 1381 amino acids, but lacks all of its zinc fingers and the ability to bind DNA at specific sequences. (J:277855)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count