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. 2020 Dec 15;21(24):9546. doi: 10.3390/ijms21249546

Table 1.

Table of SF3B1 missense mutation frequency of uveal melanoma (UM) patients. Reference sequence: NM_012433.3(SF3B1); Build: hg38 (data from: Catalogue of Somatic Mutations in cancer v92, 27-08-2020, [46]).

Position Exon AA Mutation CDS Mutation Effect Frequency (n = 122, %)
2: 197402759 14 p.R625H c.1874G > A Missense 61 (50%)
2: 197402760 14 p.R625C c.1873C > T Missense 38 (31%)
2: 197402759 14 p.R625L c.1874G > T Missense 7 (5.7%)
2: 197402760 14 p.R625G c.1873C > G Missense 1 (0.8%)
2: 197402759 14 p.R625P c.1874G > C Missense 1 (0.8%)
2: 197402760 14 p.R625S c.1873C > A Missense 1 (0.8%)
2: 197402775 14 p.M620V c.1858A > G Missense 1 (0.8%)
2: 197402767 14 p.E622D c.1866G > C Missense 1 (0.8%)
2: 197402766 14 p.Y623H c.1867T > C Missense 1 (0.8%)
2: 197402636 14 p.K666T c.1997A > C Missense 2 (1.6%)
2: 197402110 15 p.K700E c.2098A > G Missense 1 (0.8%)
2: 197401765 16 p.E783K c.2347G > A Missense 1 (0.8%)
2: 197401771 16 p.D781N c.2341G > A Missense 1 (0.8%)
2: 197401887 16 p.G742D c.2225G > A Missense 1 (0.8%)
2:197396227 23 p.C1123Y c.3368G > A Missense 1 (0.8%)