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Table 2 The splice probability of the variant types in silico analysis using different tools

From: Six splice site variations, three of them novel, in the ABO gene occurring in nine individuals with ABO subtypes

Variants ISBT Allele name GenBank ID number gnomAD v2.1.1 ID number# dbSNP ID number Frequency Nearest Type SSF (0–100) MaxEnte(0–16) NNS(0–1) GS(0–15) Splice probability
Score Change Score Change Score Change Score Change
WT MUT % WT MUT % WT MUT % WT MUT %
c.28. + 1_2delGT Novel MK393880 g.136150576_77delCA rs5442107549 NA 5' 86.72 0 100 10.9 0 100 0.99 0 100 15.11 0 100 1
c.28 + 5G > A Novel MT877223 g.136150573C > T rs5442107547 NA 5' 86.72 74.57 14.01 10.9 4.89 55.14 0.99 0.28 71.72 15.11 8.84 41.5 0.996
c.28 + 5G > C Novel MN540965 g.136150573C > G rs5442107548 NA 5' 86.72 74.03 14.63 10.9 4.54 58.35 0.99 0.16 83.84 15.11 7.91 47.65 0.997
c.155 + 5G > A ABO*B3.03 MN540966 g.136136716C > T rs782187929 0.0009% 5' 87.13 74.98 13.94 10.1 3.53 65.05 0.97 0.19 80.41 9.02 2.59 71.29 0.998
c.204-1G > A Novel MN540964 g.136133523C > A rs1444418339 0.0008% 3' 80.97 0 100 7.45 0 100 0.44 0 100 5.36 0 100 1
c.374 + 5G > A ABO*AEL.04 MN540967 g.136132791C > T rs1289213676 0.0004% 5' 84.81 72.66 14.33 9.82 3.59 63.44 0.99 0.72 27.27 3.14 0 100 0.998
  1. *SSF SpliceSiteFinder-like, MaxEnte MaxEntScan, NNS NNSPLICE, GS GeneSplicer, WT wild type, MUT mutation
  2. NA not applicable. #The position in gnomAD v2.1.1 is referenced from NC_000009.11 in gnomAD v2.1.1. Value in parentheses of the tools is score range. Nucleotide position 1 in the variants is identical to the first nucleotide of the coding sequence