This ENU-induced insertion of a single C into a string of 9 successive cytosines in a highly conserved GC-rich region is predicted to result in the replacement of 39 C-terminal amino acids with 20 novel amino acids, disrupting the last 3 PPPSPxS motifs in the cytoplasmic domain and introducing a premature stop codon. (J:241491)
Basic Information
Nucleotide repeat expansion
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count