The ENU-induced mutation is a c.968T>A substitution that changes methionine codon 323 to a lysine codon (p.Met323Lys, p.M323K). The mutation is located in the low complexity domain (LCD) of the encoded peptide. (J:101000)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count