A single T to A mutation occurred resulting in a substitution of tyrosine for asparagine at residue 630 within the KIX domain of the protein product. Computer modeling identified several putative hydrophobic interactions that could be disrupted by this Y630N mutation and cause structural distortion. Recombinant protein containing this point mutation have 7-fold reduction in binding to c-Myb protein. (J:140200)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count