The mutant transcript was analyzed by RT-PCR and found to be lacking the 59-nucleotide exon 4 (of 6 total exons). The nature of the mutation at the genomic DNA level has not been determined. Deletion of exon 4 is predicted to shift the reading frame after amino acid 43, adding 4 aberrant amino acids and creating a premature stop codon that would truncate the protein after amino acid 47. (J:133273)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count