Table 3.
Summary of all SEC23B mutations in CDAII patients, predicted effect on protein and allelic frequencies
| Exon/Intron | Nucleotide change | Protein change | Type of mutation | Allelic frequency, n (%) | References |
|---|---|---|---|---|---|
| 2 | c.40 C > T | p.Arg14Trp | Missense | 48 (19) | [11] |
| 2-3 | c.221+31 A > G | - | Splice-site change* | 2 (0.8) | [14] |
| 2 | c.53 G > A | p.Arg18His | Missense | 3 (1.2) | [11] |
| 2 | c.197 G > A | p.Cys66Tyr | Missense | 1 (0.4) | [17] |
| 3 | c.235 C > T | p.Arg79X | Non-sense | 3 (1.2) | [11] |
| 3-4 | c.279 +3 A > G | - | Splice-site change | 1 (0.4) | [14] |
| 3-4 | c.222-817_366+4242del | - | Frame-shift | 1 (0.4) | [11] |
| 4 | c.325 G > A | p.Glu109Lys | Missense | 81 (32) | [11] |
| 5 | c.367 C > T | p.Arg123X | Non-sense | 2 (0.8) | [14] |
| 5 | c.387(delG) | p.Leu129LeufsX26 | Frame-shift | 1 (0.4) | [14] |
| 5 | c.428delAinsCG | - | Frame-shift | 1 (0.4) | [10] |
| 5 | c.568 C > T | p.Arg190X | Non-sense | 1 (0.4) | [10] |
| 6 | c.640 C > T | p.Gln214X | Non-sense | 1 (0.4) | Present study |
| 6 | c.649 C > T | p.Arg217X | Non-sense | 4 (1.6) | [10] |
| 6-7 | c.689+1G > A | - | Splice-site change | 4 (1.6) | [10] |
| 7 | c.716 A > G | p.Asp239Gly | Missense | 3 (1.2) | [11] |
| 7 | c.790 C > T | p.Arg264X | Non-sense | 3 (1.2) | [11] |
| 8 | c.938 G > A | p.Arg313His | Missense | 4 (1.6) | [11] |
| 8 | c.953 T > C | p.Ile318Thr | Missense | 6 (2.4) | [11] |
| 8 | c.970 C > T | p.Arg324X | Non-sense | 2 (0.8) | [11] |
| 9 | c.1015 C > T | p.Arg339X | Non-sense | 3 (1.2) | [14] |
| 9 | c.1043 A > C | p.Asp348Ala | Missense | 1 (0.4) | [10] |
| 9 | c.1063delG | - | Frame-shift | 1 (0.4) | [11] |
| 9-10 | c.1109 +5 G > A | - | Splice-site change | 1 (0.4) | [14] |
| 9-10 | c.1190 +1 G > A | - | Splice-site change | 1 (0.4) | [14] |
| 10 | c.1157 A > T | p.Gln353Leu | Missense | 1 (0.4) | [11] |
| 10 | c.1201 C > T | p.Arg401X | Non-sense | 1 (0.4) | [11] |
| 11 | c.1254 T > G | p.Ile418Met | Missense | 3 (1.2) | [14] |
| 11 | c.1276 G > A | p.V426I Poly | Missense | 2 (0.8) | [11] |
| 11 | c.1307 C > T | p.Ser436Leu | Missense | 1 (0.4) | [14] |
| 12 | c.1385 A > G | p.Tyr462Cys | Missense | 6 (2.4) | [11] |
| 13 | c.1453 A > G | p.Thr485Ala | Missense | 1 (0.4) | Present study |
| 13 | c.1489 C > T | p.Arg497Cys | Missense | 9 (3.6) | [10] |
| 13 | c.1508 G > A | p.Arg503Gln | Missense | 1 (0.4) | [18] |
| 14 | c.1571 C > T | p.Ala524Val | Missense | 5 (2) | [11] |
| 14 | c.1588 C > T | p.Arg530Trp | Missense | 1 (0.4) | [11] |
| 14 | c.1589 G > A | p.Arg530Gln | Missense | 2 (0.8) | [18] |
| 14 | c.1603 C > T | p.Arg535X | Non-sense | 2 (0.8) | [14] |
| 14 | c.1648 C > T | p.Arg550X | Non-sense | 4 (1.6) | [18] |
| 14 | c.1654 C > T | p.Leu552Phe | Missense | 1 (0.4) | [14] |
| 14 | c.1660 C > T | p.Arg554X | Non-sense | 2 (0.8) | [10] |
| 15 | c.1685 A > G | p.Tyr562Cys | Missense | 1 (0.4) | [18] |
| 15 | c.1733 T > C | p.Leu578Pro | Missense | 2 (0.8) | [14] |
| 15 | c.1735 T > A | p.Tyr579Asn | Missense | 1 (0.4) | [14] |
| 16 | c.1808 C > T | p.Ser603Leu | Missense | 1 (0.4) | [10] |
| 16 | c.1821delT | - | Frame-shift | 3 (1.2) | [10] |
| 16 | c.1832 G > C | p.Arg611Pro | Missense | 1 (0.4) | [14] |
| 16 | c.1858 A > G | p.Met620Val | Missense | 2 (0.8) | [14] |
| 16 | c.1857_1859delCAT | p.Ile619del | In frame deletion** | 2 (0.8) | [14] |
| 17 | c.1910 T > G | p.Val637Gly | Missense | 1 (0.4) | Present study |
| 17 | c.1962-64delT | p.Thr654ThrfsX13 | Frame-shift | 1 (0.4) | [18] |
| 17 | c.1968 T > G | p.Phe656Leu | Missense | 1 (0.4) | [18] |
| 18 | c.2101 C > T | p.Arg701Cys | Missense | 9 (3.6) | [10] |
| 18 | c.2129 C > T | p.Thr710Met | Missense | 1 (0.4) | [13] |
| 18-19 | c.2149 -2 A > G | - | Splice-site change | 2 (0.8) | [14] |
| 19 | c.2150(delC) | p.Ala717ValfsX7 | Frame-shift | 1 (0.4) | [14] |
| 19 | c.2166 A > C | p.Lys723Gln | Missense | 1 (0.4) | [18] |
| 19 | c.2180 C > T | p.Ser727Phe | Missense | 1 (0.4) | Present study |
| 20 | c.2270 A > C | p.His757Pro | Missense | 1 (0.4) | [14] |
*creation of a new donor site
**1 aminoacid deletion