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Table 5 Frequency of studied SOD1 variants based on their structural and functional annotation parameters by various bioinformatics tools

From: Does conserved domain SOD1 mutation has any role in ALS severity and therapeutic outcome?

Parameter

Component(s)

Frequency

Domain location

Variable

8

Average

11

Conserve

49

PROVEAN phenotype

Deleterious

62

Neutral

6

SIFT phenotype

Affect protein

52

Tolerant

16

DDG iMutant stability

Decrease

63

Increase

5

EcoDDG stability

Destabilize

60

Stabilize

8

Eco entropy dynamut Flexibility

Decrease

38

Increase

30

HumDiv phenotype

Benign

7

Possibly damaging

8

Probably damaging

53

RegulomeDB

2b + 3a

11

 

4

46

 

5

9