Skip to main content
. 2022 May 24;10:875877. doi: 10.3389/fped.2022.875877

TABLE 2.

Specific G6PD variants that have been reported to be associated with neonatal hyperbilirubinemia.

G6PD variant cDNA nucleotide substitution Amino acid substitution Mutation class References
Nashville, Anaheim, Portici 1178G > A Arg393His I (95)
Campinas 1463G > T Gly488Val I (95)
Harilaou 648T > G Phe216Leu I (95)
Volendam 514C > T Pro172Ser I (95)
Canton, Taiwan-Hakka, Gifu-like, Agrigento-like 1376G > T Arg459Leu II (14)
Kaiping, Anant, Dhon, Sapporo-like, Wosera 1388G > A Arg463His II (14)
Gaohe 95A > G His32Arg II (14)
Viangchan, Jammu 871G > A Val291Met III (14, 96)
Mahidol 487G > A Gly163Ser III (14, 96)
Mediterranean, Dallas, Panama, Sassari 563C > T Ser188Phe II (14, 9698)
Orissa 131C > G Ala44Gly III (99)
A–202A/376G 202G > A
376A > G
Val68Met, Asn126Asp III (96)
A–376G/968C, Betica, Selma, Guantanamo 376A > G
968T > C
Asn126Asp, Leu323Pro III (96)
Union, Maewo, Chinese-2, Kalo 1360C > T Arg454Cys II (96)
Akrokorinthos 463C > G His155Asp II-III (96)
Belem 409C > T Leu137Phe II (96)
Santamaria 376A > G
542A > T
Asn126Asp, Asp181Val II (96)
Hamburg 827C > T Pro276Leu I (100)
Herlev 592C > A Arg198Ser I-II (101)