Table 2 Characterization of polymorphisms within mutant and modifiers genes in SCA patients from Tanzania. Details of gene variants can be found in Supplementary File: Table S1
(High; low HbF level) | ||||||||
|---|---|---|---|---|---|---|---|---|
Gene | #Polymorphisms | #MNP | #SNPs | #Deletion | #Insertion | #Pathogenic | #Benign | #USig* |
PGLYRP1 | 4; 4 | 0; 0 | 4; 4 | 0; 0 | 0; 0 | 0; 0 | 1; 0 | 3;4 |
ZBTB7A | 13; 11 | 0; 1 | 10; 9 | 0; 0 | 1; 1 | 0; 0 | 2; 2 | 11;9 |
CHD4 | 25; 32 | 3; 3 | 19; 27 | 1; 0 | 1; 3 | 2; 5 | 3; 4 | 20;23 |
MBD3 | 14; 19 | 0; 2 | 12; 14 | 1; 1 | 1; 4 | 1; 2 | 0; 1 | 12;17 |
KLF1 | 11; 4 | 1; 0 | 10; 4 | 0; 0 | 0; 0 | 0; 0 | 1; 1 | 10;3 |
MYB | 24; 27 | 1; 1 | 20; 23 | 0; 2 | 3; 1 | 0; 0 | 3; 1 | 21;26 |
BCL11A | 27; 27 | 1; 2 | 25; 21 | 1; 2 | 0; 2 | 0; 0 | 4; 1 | 23; 26 |
HBG2 | 5; 17 | 1; 1 | 3; 12 | 0; 2 | 1; 2 | 0; 0 | 0; 0 | 5; 17 |
HOXA9 | 2; 2 | 0; 0 | 1; 1 | 0; 0 | 1; 1 | 0; 0 | 0; 0 | 2; 2 |
HBB | 9; 10 | 0; 0 | 9; 10 | 0; 0 | 0; 0 | 0; 0 | 1; 1 | 8; 9 |