Table 2 Detection and analysis of gene variants in 8 MSUD families.
Patient ID | Gene | Proband genotype | Prediction software analysis | Pathogenicity assessment based on ACMG guideline | ||||
|---|---|---|---|---|---|---|---|---|
Genotype 1/paternal genotype | Genotype 2/maternal genotype | SIFT | Polyphen-2 | MutationTaster | Conservation | |||
P1 | BCKDHA | c.841G>C(p.Gly281Arg)a | c.841G>C(p.Gly281Arg)a | Damaging | Probably damaging | Disease causing | Conserved | PM3 + PP3 + PP4 |
P2 | BCKDHA | c.647C>T(p.Ala216Val) | c.647C>T(p.Ala216Val) | |||||
P3 | BCKDHB | c.508C>T(p.Arg170Cys) | c.511T>C(p.Ser171Pro)a | Damaging | Probably damaging | Disease causing | Conserved | PM3 + PP3 + PP4 |
P4 | BCKDHB | c.547C>T(p.Arg183Trp) | c.665A>C(p.Lys222Thr)a | Damaging | Probably damaging | Disease causing | Conserved | PM3 + PM5 + PP3 + PP4 |
P5 | BCKDHB | c.284G>C(p.Gly95Ala)a | c.853C>T(p.Arg285Ter) | Damaging | Probably damaging | Disease causing | Conserved | PM3 + PP3 + PP4 |
P6 | BCKDHB | c.331C>T(p.Arg111Ter) | c.550delT(p.S184Pfs*46) | |||||
P7 | BCKDHB | c.523T>C(p.Phe175Leu) | c.478-552del(p.I160Ffs*25) | |||||
P8 | DBT | c.1291C>T(p.Arg431Ter) | c.1291C>T(p.Arg431Ter) | |||||
