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. 2023 Feb 15;4(2):100185. doi: 10.1016/j.xhgg.2023.100185

Table 2.

SNP-affected alternative exons and bioinformatic scores of relevant splicing motifs

SNP Alternative exon and location SNP position relative to 3′ ss SNP position relative to 5′ ss 3′ ss MES Ref score 5′ ss H-bond Ref score ΔHZEI score SNP effect on splicing motif
rs35888506 ENSE00003938169 (NF1) chr17:31,324,113–31,324,209 – +2 4.73 0 N/A strengthening of 5′ ss (H-bond = 17.5); donor gain (GC 5′ ss → GT 5′ ss)
rs2854320 ENSE00001657839 (NF1) chr17:31,367,225–31,367,278 −180 – 6.19 12.3 6.41 ISE loss; branchpoint gain (TCTCT → TCTAT)
rs7502834 ENSE00003966146 (NF1) chr17:31,362,288–31,362,364 – +48 8.10 15.8 −1.66 ISE gain
rs2278868 ENSE00003557988 (SKAP1) chr17:48,184,847–48,184,723 +38 −86 8.57 14 −2.19 ESE loss

ESE, exonic splicing enhancer; H-bond, hydrogen bond; HZEI, HEXplorer exon-intron Z score; ISE, intronic splicing enhancer; MES, MaxEntScan; ss, splice site.