This mutation involves deletion of some bases, and inversion of others, in the coding sequence. Specifically, bases 477-483 of the wild-type ORF are deleted, followed by an inversion of bases 484-496. The resulting frameshift creates a translational stop codon 62 amino acids later. (J:17582)
Basic Information
Intragenic deletion, Inversion
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count