loss of function allele

A two-nucleotide deletion at 121 nucleotides downstream of a start codon, resulting in a frameshift and incorporation of ectopic amino acids followed by a premature stop codon at 153 nucleotides downstream of a start codon. This mutation resembles a variant in the orthologous Hsap\YPEL3 gene that is associated with a rare human disorder with peripheral neurological conditions including hypotonia and areflexia mutations.