Table 2 Genetic findings in patients with mutations in GMPPB
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] |