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Table 1 Details of homology modelling for five detected deleterious variants in drug-related genes

From: Pharmacovariome scanning using whole pharmacogene resequencing coupled with deep computational analysis and machine learning for clinical pharmacogenomics

Gene

Transcript ID

Protein ID

Variant

Affected domain

Residues

H-Bonds length to adjacent residues

PDB ID

Template

Template references

Systematic name

Alternative/protein name

Coverage (%)

Identity (%)

Resolution (Ã…)

RYR1

NM_000540.3

NP_000531.2

c.5861G > A

p.Arg1954His

–

His1954 (p.R1954H)

Glu1950

Leu1951

Leu1958

Val2070

Gly2130

5GKY

97

96.54

3.80

[45]

       

2.81 Å

3.29 Å

3.06 Å

3.28 Å

–

     
       

2.65 Å

3.30 Å

2.99 Å

–

2.88 Å

     
       

2.65 Å

         
      

Arg1954 (WT)

3.21 Å

         
       

2.58 Å

         

POLG

NM_002693.3

NP_002684.1

c.1760C > T

p.Pro587Leu

linker domain

Leu87 (p.P87L)

Pro87 (WT)

No H-Bond

No H-Bond

    

3IKM

94

99.83

3.24

[48]

ANXA11

NM_145868.2

NP_665875.1

c.688C > T

p.Arg230Cys

Annexin repeat

Cys230 (p.R230C)

Arg235

  

Ser229

 

6TU2

62

96.51

2.30

–

       

2.71 Å

  

–

      
      

Arg230 (WT)

2.71 Å

  

2.95 Å

      

CCNH

NM_001239.4

NP_001230.1

c.809 T > C

p.Val270Ala

C-terminal

Ala270 (p.Val270Aal)

Lys274

  

Arg266

 

1KXU

100

100

2.6

[49]

       

2.91 Å

  

3.01 Å

      
      

Val270 (WT)

2.81 Å

  

3.06 Å

      

CDH23

NM_022124.6

NP_071407.4

c.8311G > A

p.Gly2771Ser

EC 26

(Extracellular cadherin)

Ser2771 (p.Gly2771Ser)

Gly2771 (WT)

Glu2773

–

3.07 Å

    

5WJM

39 (of domain)

41.5

2.9

[50]

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Human Genomics

ISSN: 1479-7364