Table 4 In silico predictions of functional effect for most relevant variants in patients 2, 3, 5 and 8
Patient | Variants | SIFT/Polyphen | MUpro | I-Mutant 2.0 | Uniprot |
|---|---|---|---|---|---|
2 | SEMA3D p.Arg634Gln | Damaging (S = 0.05)/Benign (S = 0.02) | Decreased stability (CS = −0.53) | Decreased stability (RI = 8) | Domain Ig-Like C2 type |
GFRA1 p.Gln222Leu | Tolerated (S = 0.07)/Possibly damaging (S = 0.46) | Increased stability (CS = 0.99) | Increased stability (RI = 7) | - | |
3 | PROK1 p.Arg48Trp | Damaging (S = 0)/Probably damaging (S = 1.0) | Decreased stability (CS = −0.99) | Decreased stability (RI = 6) | - |
SEMA3D p.His424Gln | Damaging (S = 0)/Probably damaging (S = 1.0) | Decreased stability (CS = −0.79) | Decreased stability (RI = 8) | SEMA | |
GFRA1 p.Tyr85Asn | Damaging (S = 0.05)/Possibly damaging (S = 0.88) | Decreased stability (CS = −1) | Decreased stability (RI = 7) | - | |
5 | PROKR1 p.Lys354Asn | Damaging (S = 0.08)/Probably damaging (S = 0.99) | Decreased stability (CS = −0.78) | Increased stability (RI = 4) | - |
GFRA2 p. Arg94Cys | Damaging (S = 0.01)/Probably damaging (S = 1.0) | Decreased stability (CS = −0.98) | Decreased stability (RI = 5) | - | |
8 | NTF3 p.Gly76Arg | Benign (S = 1.0)/Benign (S = 0) | Decreased stability (CS = −0.84) | Decreased stability (RI = 4) | Propeptide |
GFRA1 p.Tyr85Asn | Damaging (S = 0.05)/Possibly damaging (S = 0.88) | Decreased stability (CS = −1) | Decreased stability (RI = 7) | - |