Abnormal splicing of this gene results in the generation of two mutant transcripts. The major splicing product lacks 54 bp at the 5' region of the seventh exon, encoding 18 aa in the putative DNA binding domain (DBD). The minor splice product lacks 34 bp, also at the 5' region of the seventh exon, and includes 33 bp from intron 6, yielding a frameshift mutation upstream of the putative DBD. Mutations in proximity to the splice acceptor and donor sites of the sixth and seventh exons were undetected. (J:85194)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count