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Table 3 Effects of potentially pathogenic missense variants on pirin structure

From: A comprehensive in silico exploration of the impacts of missense variants on two different conformations of human pirin protein

Varianta

Fe2 + conformation

Varianta

Fe3 + conformation

Structural Changes

Structural Changes

G19A

No structural damage detected

G19A

No structural damage detected

V24F

No structural damage detected

V24F

No structural damage detected

R25W

No structural damage detected

R25W

No structural damage detected

I28T

No structural damage detected

I28T

No structural damage detected

P38L

Cis pro replaced

P38L

This substitution triggers clash alert

D43H

Buried H-bond breakage, buried salt bridge breakage

D43H

Buried charge switch, Buried H-bond breakage, Buried salt bridge breakage

H56Q

No structural damage detected

H56Q

No structural damage detected

H58R

No structural damage detected

H58R

Cavity altered

R59P

Buried Pro-introduced, secondary structure altered, disallowed phi/psi, buried charge replaced, buried H-bond breakage, buried salt bridge breakage

R59P

Buried Pro introduced, secondary structure altered, disallowed phi/psi, buried charge replaced, buried H-bond breakage

R59Q

Buried charge replaced, buried salt bridge breakage

R59Q

Buried charge replaced, buried H-bond breakage

G60S

Buried Gly replaced, Gly in a bend

G60S

Disallowed phi/psi, buried Gly replaced, Gly in a bend

G60V

Buried Gly replaced, buried H-bond breakage, Gly in a bend

G60V

Clash, disallowed phi/psi, buried Gly replaced, buried H-bond breakage, Gly in a bend

G70A

Disallowed phi/psi, Gly in a bend

G70A

Clash, disallowed phi/psi, buried Gly replaced, buried H-bond breakage, Gly in a bend

G70R

Clash, disallowed phi/psi, Gly in a bend

G70R

Clash, disallowed phi/psi, Gly in a bend

G70V

Disallowed phi/psi, Gly in a bend

G70V

Disallowed phi/psi, Gly in a bend

D77E

No structural damage detected

D77E

No structural damage detected

F78V

Buried H-bond breakage

F78V

No structural damage detected

H81P

No structural damage detected

H81P

No structural damage detected

G83D

No structural damage detected

G83D

Cavity altered

L90F

No structural damage detected

L90F

No structural damage detected

A95V

No structural damage detected

A95V

No structural damage detected

G98D

Buried charge introduced, disallowed phi/psi, buried Gly replaced

G98D

Buried charge introduced, disallowed phi/psi, buried Gly replaced

G98S

Disallowed phi/psi, buried Gly replaced

G98S

Disallowed phi/psi, buried Gly replaced

H101Y

Buried charge replaced, buried H-bond breakage, cavity altered

H101Y

Buried charge replaced, buried H-bond breakage, cavity altered

Q115K

No structural damage detected

Q115K

No structural damage detected

L116P

Buried Pro introduced, Disallowed phi/psi

L116P

Buried Pro introduced, disallowed phi/psi

M126T

No structural damage detected

M126T

No structural damage detected

P129L

No structural damage detected

P129L

No structural damage detected

V151D

Buried hydrophilic introduced, buried charge introduced

V151D

Buried hydrophilic introduced, buried charge introduced

S161Y

No structural damage detected

S161Y

No structural damage detected

T167I

No structural damage detected

T167I

No structural damage detected

D173G

Buried H-bond breakage Cavity altered, buried / exposed switch

D173G

Buried H-bond breakage, cavity altered, buried / exposed switch

D173N

Buried charge replaced

D173N

No structural damage detected

G179V

No structural damage detected

G179V

No structural damage detected

P187L

No structural damage detected

P187L

No structural damage detected

W190S

No structural damage detected

W190S

No structural damage detected

L220P

Buried Pro introduced

L220P

Buried Pro introduced

P245S

No structural damage detected

P245S

No structural damage detected

E248A

No structural damage detected

E248A

No structural damage detected

E248D

No structural damage detected

G254C

Disallowed phi/psi

G254C

Disallowed phi/psi

G254V

Disallowed phi/psi

G254V

Disallowed phi/psi

E248D

No structural damage detected

V257A

No structural damage detected

V257A

No structural damage detected

M258I

No structural damage detected

M258I

No structural damage detected

I264S

No structural damage detected

I264S

No structural damage detected

  1. aVariants that were predicted to be damaging to pirin structure are written in bold letters