This allele is a 10 base pair deletion occuring after the coding sequence for amino acid residue 58. This causes a frameshift such that the remaining protein sequence (residues 59-134) are unlike any known or predicted protein sequence. There is, as well, a total lack of the normal 310 amino acid helical rod domain. (J:85980)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count