The mutation was identified as the insertion of single nucleotide (A) In exon 7 following Nucleotide 598. The frameshift results in normal protein through codon 145 of exon 7 followed by 12 aberrant amino acids and a premature stop codon. The linker region, homeodomain, and P/S/T domains are all deleted in the resulting protein. (J:73625)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count