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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