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+ | normal | none | none | |
| A+ | nonchronic | 376 A→G | Asn→Asp | polar to acidic |
| A− | nonchronic | 376 A→G | Asn→Asp | polar to acidic |
| 202G→A | Val→Met | nonpolar to nonpolar | ||
| Mediterranean | nonchronic | 563 C→T | Ser→Phe | polar to nonpolar |
| Tsukui | chronic | 561-563 del | 188/189 del | – |
| Minnesota | chronic | 637 G→T | 213 Val→Leu | nonpolar to nonpolar |
| Asahikawa | chronic | 695 G→A | 232 Cys→Tyr | slightly polar to nonpolar |
| Durham | chronic | 713 A→G | 238 Lys→Arg | basic to basic |
| Wayne | chronic | 769 C→G | 257 Arg→Gly | basic to nonpolar |
| Loma Linda | chronic | 1089 C→A | 363 Asn→Lys | polar to basic |
| Tomah | chronic | 1153 T→C | 385 Cys→Arg | slightly polar to basic |
| Iowa | chronic | 1156 A→G | 386 Lys→Glu | basic to acidic |
| Walter Reed | chronic | 1156 A→G | 386 Lys→Glu | basic to acidic |
| Iowa City | chronic | 1156 A→G | 386 Lys→Glu | basic to acidic |
| Springfield | chronic | 1156 A→G | 386 Lys→Glu | basic to acidic |
| Guadalajara | chronic | 1159 C→T | 387 Arg→Cys | basic to slightly polar |
| Iwate | chronic | 1160 G→A | 387 Arg→His | basic to acidic/basic |
| Niigata | chronic | 1160 G→A | 387 Arg→His | basic to acidic/basic |
| Yamaguchi | chronic | 1160 G→A | 387 Arg→His | basic to acidic/basic |
| Portici | chronic | 1178 G→A | 393 Arg→His | basic to acidic/basic |
| Alhambra | chronic | 1180 G→C | 394 Val→Leu | nonpolar to nonpolar |
| Tokyo | chronic | 1246 G→A | 416 Glu→Lys | acidic to basic |
| Fukushima | chronic | 1246 G→A | 416 Glu→Lys | acidic to basic |
| Atlanta | chronic | 1284 C→A | 428 Tyr→End | – |
| Pawnee | chronic | 1316 G→C | 439 Arg→Pro | basic to nonpolar |
| Morioka | chronic | 1339 G→A | 447 Gly→Arg | nonpolar to basic |
-
All data comes from Yoshida and Lin (1973); Vulliamy et al. (1988); Beutler (1990); Au et al. (2000); Fiorelli et al. (2000).
-
↵Most, but not all of the A variants have an amino-acid 202 mutation; some have the second mutation at another site.
