Table 1.
The 40 mutations identified in glomulin
| No. | GLMN mutation (HGVS name) (refseq # NG_009796.1) | Exon | Protein | Freq. (index cases) | Mutation old nomenclature (= former published name) | First published in |
|---|---|---|---|---|---|---|
| 1. | c.31_32del | 2 | p.(Lys11Glufs*11) | 1 | 31delAA | Brouillard et al., 2002 |
| 2. | c.36_37del | 2 | p.(Cys13Serfs*9) | 2 | 36delAT | Brouillard et al., 2008 |
| 3. | c.82del | 3 | p.(Leu28Tyrfs*4) | 1 | 81delC | Brouillard et al., 2008 |
| 4. | c.92del | 3 | p.(Leu31*) | 1 | – | - |
| 5. | c.107dup | 3 | p.(Cys36Trpfs*17) | 2 | 107insG | Brouillard et al., 2002 |
| 6. | c.108C>A | 3 | p.(Cys36*) | 11 | 108C>A | Brouillard et al., 2002 |
| 7. | c.157_161del | 3 | p.(Lys53*) | 72 | 157delAAGAA | Brouillard et al., 2002 |
| 8. | c.166–25_177del | 4 | altered splicing | 1 | (IVS3–25)–177del37nt | Brouillard et al., 2008 |
| 9. | c.251_252del | 4 | p.(Lys84Serfs*7) | 1 | 251delAA | Brouillard et al., 2008 |
| 10. | c.394+1G>A | 5 | altered splicing | 1 | IVS5+1(G>A) | Brouillard et al., 2008 |
| 11. | c.394+2T>C | 5 | altered splicing | 1 | – | – |
| 12. | c.395–1G>A | 6 | altered splicing | 2 | IVS5–1(G>A) | Brouillard et al., 2008 |
| 13. | c.395–1G>C | 6 | altered splicing | 1 | IVS5–1(G>C) | Brouillard et al., 2008 |
| 14. | c.422dup | 6 | p.(Tyr141*) | 8 | 422insA (reported as 421insT) | Brouillard et al., 2002 |
| 15. | c.483C>G | 6 | p.(Tyr161*) | 1 | – | – |
| 16. | c.489_490delinsT | 6 | p.(Lys163Asnfs*18) | 1 | – | – |
| 17. | c.554_558delinsG | 6 | p.(Lys185Serfs*19) | 5 | 554delA+556delCCT | Brouillard et al., 2002 |
| 18. | c.632+4del | 6 | altered splicing | 1 | IVS6+4delA | Brouillard et al., 2002 |
| 19. | c.736–2883_1214+255delinsGG | 8–13 | altered splicing | 1 | (IVS7–2884)–(IVS13+255) del8.4kbp+insGG | Brouillard et al., 2002 |
| 20. | c.743dup | 8 | p.(Leu248Phefs*14) | 8 | 738insT | Brouillard et al., 2005 |
| 21. | c.841_842del | 8 | p.(Gln281Valfs*20) | 1 | – | – |
| 22. | c.844_847del | 8 | p.(Leu282Glnfs*10) | 4 | 842delAGTT | Brouillard et al., 2002 |
| 23. | c.845T>G | 8 | p.(Leu282*) | 2 | 845T>G | Brouillard et al., 2008 |
| 24. | c.977+2T>C | 9 | altered splicing | 1 | – | – |
| 25. | c.1009G>T | 11 | p.(Glu337*) | 1 | – | – |
| 26. | c.1122_1123del | 12 | p.(Cys375Profs*3) | 1 | c.1121delTT | Borroni et al., 2011 |
| 27. | c.1147_1148del | 13 | p.(Lys383Glufs*10) | 2 | – | – |
| 28. | c.1150_1151del | 13 | p.(ser384Phefs*9) | 2 | 1150delAG | Brouillard et al., 2005 |
| 29. | c.1179_1181del | 13 | p.(Asn393del) | 11 | 1179delCAA | Brouillard et al., 2002 |
| 30. | c.1208T>G | 13 | p.(Leu403*) | 1 | – | – |
| 31. | c.1214+2T>C | 13 | altered splicing | 1 | IVS13+2(T>C) reported as IVS13+1 | Brouillard et al., 2008 |
| 32. | c.1215–1G>C | 14 | altered splicing | 2 | IVS13–1(G>C) | Brouillard et al., 2008 |
| 33. | c.1290_1294del | 14 | p.(Met430Ilefs*6) | 1 | – | – |
| 34. | c.1293_1298delinsTT | 14 | p.(Leu432*) | 1 | 1293delA+1296delAAA | Brouillard et al., 2005 |
| 35. | c.1355del | 15 | p.(Leu452Trpfs*24) | 2 | 1355delT | Brouillard et al., 2002 |
| 36. | c.1470_1473del | 16 | p.(Asn490Lysfs*16) | 4 | 1470delTCAA | Brouillard et al., 2002 |
| 37. | c.1547C>G | 17 | p.(ser516*) | 1 | 1547C>G | Brouillard et al., 2002 |
| 38. | c.1582C>T | 17 | p.(Gln528*) | 1 | 1582C>T | Brouillard et al., 2008 |
| 39. | c.1711_1712del | 19 | p.(val571Serfs*9) | 1 | 1711delGT | Brouillard et al., 2002 |
| 40. | c.1720C>T | 19 | p.(Arg574*) | 1 | 1720C>T | Brouillard et al., 2008 |