Serine codon 398 (TCA) in exon 9 was changed to alanine (GCA) (p.S398A). The loxP and FRT site flanked neomycin resistance gene cassette that was inserted was removed through subsequent Flp-mediated recombination. The mutation prevents phosphorylation of the residue in the encoded peptide. (J:314706)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count