A cytosine to adnenosine transversion point mutation was engineered in exon 9, using a "hit and run" strategey, affecting a proline to histidine missense mutation at codon 398 (P398H). The mutation is dominant-negative. (J:86164)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count