Table 2 Mutations in spliceosomal genes of MDS patients and the resulting acid changes
Gene | Mutation | Amino acid change | Frequency (%) | |
|---|---|---|---|---|
SF3B1 | Exon 14 | c.1998G > C | p.Lys666Asn | 1/129 (0.8) |
c.1986C > G | p.His662Gln | 1/129 (0.8) | ||
Exon 15, 16 | c.2098A > G | p.Lys700Glu | 7/129 (5.4) | |
Exon 18 | No mutation | No mutation | ||
U2AF1 | Exon 2 | c.101C > A | p.Ser34Tyr | 2/129 (1.6) |
c.101C > T | p.Ser34Phe | 3/129 (2.3) | ||
Exon 6, 7 | c.470A > C | p.Gln157Pro | 5/129 (3.9) | |
SRSF2 | Exon 1 | c.284C > A | p.Pro95His | 6/129 (4.7) |
c.284C > G | p.Pro95Arg | 4/129 (3.1) | ||
c.284C > T | p.Pro95Leu | 3/129 (2.3) |