A premature stop codon was inserted into the locus on a 434 cDNA encoding the intracellular domain, 5 amino acids downstream of the NFDNPVY sequence. As a result, part of exon 18 and all of exons 19 and 20, were removed. (J:117956)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count