Pklr^char4

A spontaneous mutation was observed in 2 recombinant congenic strains carrying susceptibility alleles for malaria resistance QTL Char1 and Char2. A point mutation has occurred changing base 269 from T to A. This results in an amino acid change at residue 90 from isoleucine to asparagine. The identical I to N mutation has been described in a human case of pyruvate kinase deficiency. (J:86735)