Nucleotide substitution: C942T. Amino acid replacement: R119C. Residue 382 is Leu.
C19564914T
C942T
R119C | G6pd-PA; R97C | G6pd-PB; R97C | G6pd-PC
R119C
Mutation presumed to be responsible for electrophoretic variant.
Eanes.
Isolated from: Mt. Sinai, NY population. Isolated from: St. James, NY population. Isolated from: Lincoln, MA population.