The following amino acid subsitutions were introduced by homologous recombination: arginine to glycine at position 53 (R53G), isoleucine to tyrosine at position 57 (I57Y), and aspartic acid to glycine at position 64 (D64G). These mutations revert the coding sequence to the germline codons. (J:82329)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count