CRISPR/Cas9 mediated recombination introduced a serine (AGC) to alanine (GCC) mutation at codon 845. This mutation eliminates a phosphorylation site in this location. (J:263802)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count