Sequence analysis revealed a 14 bp deletion in the genomic DNA. This deletion removes a splice donor site, resulting in a transcript for this allele that is 92 bp longer than that of the wild-type allele due to the retention of intronic sequence between exons 8 and 9. The retained sequence includes the splice donor site of exon 8. The inserted sequence introduces a premature stop codon that results in the loss of a substantial portion of the N-terminal portion of the open reading frame of the encoded protein. Loss of protein product was confirmed by Western blot analysis. (J:96392)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count