Point mutations in exon 3 changing arginine to glutamine at amino acid 79, and introducing a silent NdeI restriction site just downstream of amino acid 79 for genotyping. (J:332483)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count