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