Table 2 In silico analyzes for detected variants applying multiple tools.

From: Genetic and functional analyses of CTBP2 in anorexia nervosa and body weight regulation

SNP ID

AA alteration

Cper. (%)a

Pathogenicity

RNA splicingd

Protein stabilitye

RIBEYE

NTb

AAc

Protein

cDNA

i/nf

j/mg

k/hh

Decreased

Increased

rs150867595

p.Pro53Ser

78.05

73.17

3/3

3/3

NA.

6

0

rs146900874

p.Arg72Trp

95.12

51.22

3/3

1/2

NA.

6

0

rs3781407

p.Asp195=

56.10

NA.

0/3

NA.

0/2

NA.

NA.

rs116403181

p.Ser212=

75.61

NA.

0/3

NA.

0/2

NA.

NA.

rs3781408

p.Asp213Asn

82.93

82.93

0/3

0/3

NA.

6

0

rs3781409

p.Val234Met

92.68

90.24

3/3

1/2

NA.

6

0

rs45440394

p.Arg287=

87.80

NA.

1/3

NA.

0/2

NA.

NA.

rs375685611

p.Val289Met

80.49

68.29

0/3

1/3

NA.

6

0

rs3781411

p.Arg298Gln

90.24

90.24

3/3

2/2

NA.

6

0

rs769811964

p.Leu310Val

87.80

92.86

1/3

2/3

NA.

5

1

rs142101185

p.Ser331=

60.98

NA.

1/3

NA.

0/2

NA.

NA.

rs202010294

p.Gly362Arg

68.29

65.85

0/3

2/3

NA.

6

0

rs45535234

p.Ser376=

51.22

NA.

1/3

NA.

1/2

NA.

NA.

rs535621897

p,Glu377Asp

34.15

78.05

0/3

0/2

NA.

4

2

rs3781412

p.Leu392Pro

92.68

75.61

2/2

1/2

NA.

5

1

rs76134089

p.Pro397Ala

92.68

92.68

2/2

3/3

NA.

4

2

rs113477585

p.Pro402Ser

70.73

39.02

0/2

2/2

NA.

4

2

rs3781413

p.Ala418=

31.71

NA.

0/3

NA.

2/2

NA.

NA.

rs3012075

p.Tyr455His

92.68

85.37

0/3

1/2

NA.

6

0

rs894087529

p.Pro466=

46.34

NA.

1/3

NA.

1/2

NA.

NA.

rs2946994

p.Gln539Glu

90.24

90.24

2/3

1/2

NA.

3

3

  1. Variants shown in bold are non-synonymous variants with high conservation percentage that may cause decreased protein stability and function alteration.
  2. AA amino acid, NA not applicable in our study.
  3. aCper. (%): conservation percentage in percentile.
  4. bNT: deleteriousness analysis for nucleotide exchange (both SVs and NSVs).
  5. cAA: deleteriousness analysis for amino acid exchange (NSVs).
  6. dRNA splicing: the effect of synonymous variants (located in coding and non-coding region) on RNA splicing.
  7. eProtein stability: the effect of non-synonymous coding variant on protein structure.
  8. fi/n: the count of in silico tools which predicted pathogenic (i) in (n) accessible software for NT deleteriousness analyses.
  9. gj/m: the count of in silico tools which predicted pathogenic (j) in (m) accessible software for AA deleteriousness analyses.
  10. hk/h: the count of in silico tools which predicted as the variant may affect RNA splicing pattern (k) in (h) accessible software.
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