Sequence analysis of the 3J allele revealed a 17 nucleotide deletion beginning at base 1874. This deletion results in a shift of the reading frame, and a premature termination of the protein at the 11th amino acid after the deletion site. The mutation is predicted to result in a truncated receptor without a transmembrane domain and affects all Lepr splice variants. (J:40658)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count