CRISPR/Cas9 technology generated a CAG to GCC codon change in exon 4 resulting in a glutamine to alanine substitution at amino acid 128 (p.Q128A). This mutation abolishes Kirrel3 dimerization. (J:326967)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count