Table 3.
Human SEPSECS mutations.
| Age in Year (Gender) | Mutation | Protein Change |
Alleles Affected |
Ethnicity | Reference |
|---|---|---|---|---|---|
| 6 (F 1); 7.5 (2) | c.1001 A > G | Y334C | homozygous | Jewish/Iraq | [56] |
| 4 (F); 2.5 (M) | c.715 G > A c.1001 A > G |
A239T Y334C |
compound heterozygous |
Iraqi/ Moroccan |
[56] |
| 7 (F); 4 (F); 2 (F) |
c.1466 A > T | D489V | homozygous | Jordan | [57] |
| 0 (M); 0 (F); 0 (F); 0 (F) | c.974 C > G c.1287 C > A |
T325S Y429X |
compound heterozygous |
Finnish | [58] |
| 14 (F) | c.1 A > G c.388 + 3 A > G |
M1V G130Vfs * 5 |
compound heterozygous |
N/A 3 | [59] |
| N/A | c.1027–1120del | E343Lfs * 2 | Homozygous | N/A 3 | [60] |
| 9 (M) | c.1001 A > C | Y334H | homozygous | Arabian | [61] |
| 10 (F) | c.77delG c.356 A > G |
R26Pfs * 42 N119S |
compound heterozygous |
Japanese | [62] |
| 21 (F) | c.356 A > G c.467 G > A |
N119S R156Q |
compound heterozygous |
Japanese | [62] |
| 1 (M) | c.176 C > T | A59V | Homozygous | N/A 3 | [63] |
| 23 (F) | c.1321 G > A | G441R | Homozygous | N/A 3 | [64] |
| 4 (F) | c.114 + 3 A > G | N/A 3 | Homozygous | Moroccan | [65] |
| N/A 1 | c.877 G > A | A293T | Homozygous | N/A 3 | [66] |
1 F: Female; 2 M: Male; 3 N/A: Not available.