Table 1.

Molecular Characterization of Specific SNPs for Selected Cases of G6PD Variants Including DNA Sequence Change, Corresponding Amino-Acid Change, and Result

Variant Type Nucleotide change Amino-acid change Result
B+normalnonenone
A+nonchronic376 A→GAsn→Asppolar to acidic
A−nonchronic376 A→GAsn→Asppolar to acidic
202[ii]G→AVal→Metnonpolar to nonpolar
Mediterraneannonchronic563 C→TSer→Phepolar to nonpolar
Tsukuichronic561-563 del188/189 del–
Minnesotachronic637 G→T213 Val→Leunonpolar to nonpolar
Asahikawachronic695 G→A232 Cys→Tyrslightly polar to nonpolar
Durhamchronic713 A→G238 Lys→Argbasic to basic
Waynechronic769 C→G257 Arg→Glybasic to nonpolar
Loma Lindachronic1089 C→A363 Asn→Lyspolar to basic
Tomahchronic1153 T→C385 Cys→Argslightly polar to basic
Iowachronic1156 A→G386 Lys→Glubasic to acidic
Walter Reedchronic1156 A→G386 Lys→Glubasic to acidic
Iowa Citychronic1156 A→G386 Lys→Glubasic to acidic
Springfieldchronic1156 A→G386 Lys→Glubasic to acidic
Guadalajarachronic1159 C→T387 Arg→Cysbasic to slightly polar
Iwatechronic1160 G→A387 Arg→Hisbasic to acidic/basic
Niigatachronic1160 G→A387 Arg→Hisbasic to acidic/basic
Yamaguchichronic1160 G→A387 Arg→Hisbasic to acidic/basic
Porticichronic1178 G→A393 Arg→Hisbasic to acidic/basic
Alhambrachronic1180 G→C394 Val→Leunonpolar to nonpolar
Tokyochronic1246 G→A416 Glu→Lysacidic to basic
Fukushimachronic1246 G→A416 Glu→Lysacidic to basic
Atlantachronic1284 C→A428 Tyr→End–
Pawneechronic1316 G→C439 Arg→Probasic to nonpolar
Moriokachronic1339 G→A447 Gly→Argnonpolar to basic

[i] All data comes from Yoshida and Lin (1973); Vulliamy et al. (1988); Beutler (1990); Au et al. (2000); Fiorelli et al. (2000).

[ii] Most, but not all of the A variants have an amino-acid 202 mutation; some have the second mutation at another site.