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Table 2 Genetic findings in patients with mutations in GMPPB

From: Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

  Mutation SIFT (score) Polyphen 2 score Protein domain Amino acid conservation Reference
P1 p.I219T
p.R287Q
Deleterious (0.04)
Tolerated (0.27)
Benign 0,267
Benign 0,117
N-TC domain
LbH
moderately conserved
weakly conserved
[28]
[11]
P2 p.T153I
p.Q234*
Tolerated (0.22)
na
Possibly damaging 0,812
na
N-TC domain
na
weakly conserved
weakly conserved
[14]
This work
P3 p.K31E
p.G174S
Deleterious (0.02)
Deleterious (0)
Probably damaging 0,992
Probably damaging 1,00
N-TC domain
N-TC domain
highly conserved
highly conserved
This work
This work
P4 p.T153I
p.P32L
Tolerated (0.22)
Deleterious (0)
Possibly damaging 0,812
Probably damaging 1,00
N-TC domain
N-TC domain
weakly conserved
highly conserved
[14]
[11]
P5 p.P32L
p.R287Q
Deleterious (0)
Tolerated (0.27)
Probably damaging 1,00
Benign 0,117
N-TC domain
LbH
highly conserved
weakly conserved
[11]
[11]
P6 p.G315S
p.D27H
Deleterious (0,01)
Deleterious (0,02)
Probably damaging 0,989
Benign 0,089
LbH
N-TC domain
highly conserved
weakly conserved
[15]
[11]
P7 p.S168F
p.Q234*
Deleterious (0,01)
na
Probably damaging 1,00
na
N-TC domain
na
highly conserved
weakly conserved
This work
This work
P8 p.R243W
p.P32L
Deleterious (0,02)
Deleterious (0)
Benign (0,006)
Probably damaging 1,00
na
N-TC domain
highly conserved
highly conserved
[26]
[11]
P9 p.D27H
p.V330I
Deleterious (0,02)
Deleterious (0)
Benign 0,089
Probably damaging (0,981)
N-TC domain
na
weakly conserved [11]
[27]
P10 p.D27H
p.V330I
Deleterious (0,02)
Deleterious (0)
Benign 0,089
Probably damaging (0,981)
N-TC domain
na
weakly conserved
highly conserved
[11]
[27]
P11 p.R288G
p.C285YfsX19
Deleterious (0.01)
na
Probably damaging (0.980) LbH
LbH
moderately conserved
weakly conserved
This work
This work
P12 p.G220R
p.R287Q
Deleterious (0)
Tolerated (0.27)
Probably damaging (0.999)
Benign 0,117
N-TC domain
LbH
highly conserved
weakly conserved
This work
[11]
P13 p.R287Q
p.V330I
Tolerated (0.27)
Damaging(0)
Benign 0,117
Probably damaging (0,981)
LbH
na
weakly conserved
highly conserved
[11]
[27]
  1. Legend: na not applicable, N-TC domain N terminal catalytic domain, LbH Left-handed parallel beta-Helix domain. Novel mutations are in bold
  2. *indicates in genetics the presence of a STOP CODON