Table 2.
Pathogenic variants of AGPAT2 gene in the compound heterozygous state.
| Compound heterozygote variants | ||||
|---|---|---|---|---|
| Exon | cDNA | Protein | Number of cases | References |
| Exon 2 Intron 4 |
202C > T IVS4-2A > G |
Arg68X Gln196fsX228 |
2 | (43) |
| Exon3 Intron 4 |
c.369_372delGCTC IVS4-2A > G |
Leu124SerfsX26 – |
1 | (38) |
| Exon 3 Exon 4 |
406G > A 504delGA |
Gly136Arg Val167fsX183 |
1 | (9) |
| Exon 3 Intron 4 |
418delTTC IVS4-2A > G |
140delPhe Gln196fsX228 |
1 | (9) |
| Exon 3 Intron 4 |
377insT IVS4-2A > G |
Leu126fsX146 Gln196fsX228 |
2 | (9) |
| Exon 3 Intron 4 |
355 C > T IVS4-2A > G |
Pro112Leu Gln196fsX228 |
1 | (43) |
| Exon 4 Exon 5 |
c.513del C c.622_626TCCTC |
Glu172ArgfsX81 Ser208LeufsX267 |
1 | (44) |
| Exon 4 Intron 1 |
538Gdel IVS1+1G > A |
Asp180fsX251 – |
1 | (30) |
| Exon 4 Intron 3 |
c.636 C > A IVS3-1G > C |
Phe189X Asn164fsX249 |
1 | (37) |
| Exon 4 Intron 4 |
570 C > A IVS4-2A > G |
Tyr190X Gln196fsX228 |
2 | (30) |
| Exon 6 Intron 4 |
683T > C IVS4-2A > G |
Leu228Pro Gln196fsX228 |
2 | (9) |
| Exon 6 – |
c. 712 C > G – |
Ala238Gly – |
1 | (19) |
| Exon 6 Exon 6-3'UTR |
716 C > T c.916 C > G |
Ala239Val – |
1 | (9) |
| Intron 1 – |
IVS1-2A > G – |
Phe60fsX102 – |
1 | (19) |
| Intron 4 Intron 3 |
IVS4-2A > G IVS3+1G > A |
Gln196fsX228 – |
1 | (30) |
| Intron 4 – |
IVS4-2A > G – |
Phe109fsX452 – |
2 | (19) |