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Table 1 The detection rate of G6PD variants in infants with pathologic jaundice

From: A novel G6PD deleterious variant identified in three families with severe glucose-6-phosphate dehydrogenase deficiency

Nucleotide changed Protein changed No. of the detected variants Variant proportion
(n = 439)
Variant frequency
(n = 1565)
ClinVar Variation ID HGMD Accession Number
NM_001042351.2:c.95A > G
NM_000402.4:c.185A > G
NP_001035810.1:p.His32Arg
NP_000393.4:p.His62Arg
50 11.39% 3.19% 10,403 CM910158
NM_001042351.2:c.466G > A NM_000402.4:c.556G > A NP_001035810.1:p.Glu156Lys NP_000393.4:p.Glu186Lys 16 3.64% 1.02% 10,364 CM880031
NM_001042351.2:c.871G > A NM_000402.4:c.961G > A NP_001035810.1:p.Val291Met NP_000393.4:p.Val321Met 32 7.29% 2.04% 10,386 CM930275
NM_001042351.2:c.1004 C > A NM_000402.4:c.1094C > A NP_001035810.1:p.Ala335Asp NP_000393.4:p.Ala365Asp 12 2.73% 0.77% NA CM950506
NM_001042351.2:c.1024C > T
NM_000402.4:c.1114C > T
NP_001035810.1:p.Leu342Phe
NP_000393.4:p.Leu372Phe
28 6.38% 1.79% 10,405 CM930276
NM_001042351.2:c.1118 T > C
NM_000402.4: c.1208 T > C
NP_001035810.1:p.Phe373Ser
NP_000393.4:p.Phe403Ser
3 0.68% 0.19% NA NA
NM_001042351.2:c.1192 G > A
NM_000402.4:c.1282G > A
NP_001035810.1:p.Glu398 Lys
NP_000393.4:p.Glu428Lys
12 2.73% 0.77% NA CM910162
NM_001042351.2:c.1376G > T
NM_000402.4:c.1466G > T
NP_001035810.1:p.Arg459Leu
NP_000393.4:p.Arg489Leu
140 31.89% 8.95% 100,058 CM910163
NM_001042351.2:c.1388G > A
NM_000402.4:c.1478G > A
NP_001035810.1:p.Arg463His
NP_000393.4:p.Arg493His
146 33.26% 9.33% 100,059 CM910164
  1. Note: In the database of Exome Aggregation Consortium (ExAC), ClinVar and HGMD, some G6PD variants are only expressed in G6PD splice variant 1 (NM_000402.4) (https://www.ncbi.nlm.nih.gov/nuccore/NM_000402), some in splice variant 2, which lacks exon 1 (NM_001042351.2) (https://www.ncbi.nlm.nih.gov/nuccore/NM_001042351.2), and some in both splice variants. The G6PD mutant in the two splice variants are listed in the table. We were not able to amplify the first exon of the G6PD in the 1565 infants. This means we could only detected the G6PD splice variant 1 in the cohort. All the G6PD variants we detected in our cohort from the Wuhan area are in G6PD splice variant 2, which is also the reason why each G6PD mutant in splice variant 2 (NM_001042351.2) is listed first in the table