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Table 4 Results from gnomAD, I-Mutant2.0, Mupro, ConSurf and COACH

From: In-silico analysis predicts disruption of normal angiogenesis as a causative factor in osteoporosis pathogenesis

gnomAD

 Hub gene

SNP

Variation

Result

Effect

  IL6

rs2069849

C-T

pass

*PLoF

  IGF1

rs35767

A-C

not pass

-

  TLR4

rs1057317

C-A

not pass

-

  BGLAP

rs1800247

T-C

pass with warning

-

  BMP2

rs2273073

T-G

pass

*PLoF

  TGFB1

rs1800470

G-A

pass

*PLoF

  TP53

rs1042522

G-C

pass

*PLoF

*PLoF - Predicted loss of function

 I-Mutant2.0

  Hub gene

SNP

Variation

**DDG

Effect

  IL6

rs2069849

F-L

-1.35

Decrease stability

  BMP2

rs2273073

S-A

0.01

Increase stability

  TGFB1

rs1800470

P-L

-0.85

Decrease stability

  TP53

rs1042522

P-R

0.38

Increase stability

**DDG - delta delta G, DDG < 0: Decrease Stability, DDG > 0: Increase Stability

 MUpro

  Hub gene

SNP

Variation

**DDG

Effect

  IL6

rs2069849

F-L

-0.58605643

Decrease stability

  BMP2

rs2273073

S-A

-0.2650236

Decrease stability

  TGFB1

rs1800470

P-L

-0.050797501

Decrease stability

  TP53

rs1042522

P-R

0.16475502

Increase stability

**DDG - delta delta G, DDG < 0: Decrease Stability, DDG > 0: Increase Stability

 ConSurf

  Hub gene

SNP

Position

Region

 

  IL6

rs2069849

201

conserved region

 

  BMP2

rs2273073

37

variable region

 

  TGFB1

rs1800470

10

variable region

 

 COACH

  Hub gene

SNP

Position

Prediction

Score

  IL6

rs2069849

201

consensus binding residue

0.02

  BMP2

rs2273073

37

not a binding residue

-

  TGFB1

rs1800470

10

not a binding residue

-

 YASARA FoldX

  Hub gene

SNP

Variation

Prediction

ΔΔG

  IL6

rs2069849

F201L

Unstable

1.936

ΔΔG < 0: Increase Stability, ΔΔG > 0: Decrease Stability