From: Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity
Spot | Nucleotide change | Protein prediction | Type | Prediction of pathogenicity | Classification | ACMG classification | Referenceb | Frequency (patients) | ||
---|---|---|---|---|---|---|---|---|---|---|
SIFT® | Polyphen-2® | MutPred® | ||||||||
BCKDHA gene | ||||||||||
Promoter | c.109-3575_288 + 4del | p.(?) | SS | – | – | – | Damaging | – | Feier et al. [15] | 1/21 |
Exon 2 | c.116C > A | p.(Pro39His) | M | Non-damaging | Non-damaging | Non-damaging | Non-damaging | – | Henneke et al. [25]c | 5/21 |
Exon 2 | c.116C > T | p.(Pro39Leu) | M | Non-damaging | Non-damaging | Non-damaging | Non-damaging | Uncertain significance PP2/PP3/PM2 | This studya | 1/21 |
Exon 2 | c.166G > C | p.(Gly56Arg) | M | Damaging | Damaging | Non-damaging | Non-Damaging | Uncertain significance PP2/PP3/PM2 | This study | 2/21 |
Exon 3 | c.357_358delCT | p.(Tyr120Ter) | D | – | – | – | Damaging | Phatogenic PVS1/PP3/PM2 | This study | 1/21 |
Exon 4 | c.454G > A | p.(Asp152Ans) | M | Damaging | Damaging | Damaging | Damaging | – | Quental et al. [17] | 1/21 |
Exon 6 | c.659C > T | p.(Ala220Val) | M | Damaging | Damaging | Damaging | Damaging | – | Rodriguez-Pombo et al. [9] | 1/21 |
Exon 6 | c.740_741insT | p.(Ala248Cysfs * 10) | I | – | – | – | Damaging | – | DB | 2/21 |
Exon 7 | c.859C > T | p.(Arg287Ter) | N | – | – | – | Damaging | – | Chinsky et al. [37] | 1/21 |
BCKDHB gene | ||||||||||
Exon 1 | c.92_102dup11 | p.(Phe35Trpfs * 41) | Dup | – | – | – | Damaging | – | Rodriguez-Pombo et al. [9] | 1/21 |
Exon 1 | c.188_189delinsCA | p.(Arg63Pro) | M | Non-damaging | Non-damaging | Non-damaging | Non-damaging | Uncertain significance BP4/PM2/PP2 | This study | 1/21 |
Intron 3 | c.343 + 2 T > G | p.(?) | SS | – | – | – | Damaging | – | Feier et al. [15] | 1/21 |
Exon 4 | c.392G > T | p.(Gly131Val) | M | Damaging | Damaging | Damaging | Damaging | Uncertain significance PP2/PP3/PM2 | This study | 2/21 |
Exon 4 | c.436delinsCA | p.(Glu146Glnfs * 13) | D/I | – | – | – | Damaging | Pathogenic PVS1/PP3/PM2 | This study | 1/21 |
Exon 4 | c.445_446delTT | p.(Phe149Cysfs * 9) | D | – | – | – | Damaging | Pathogenic PVS1/PP3/PM2 | This study | 1/21 |
Exon 5 | c.498G > C | p.(Lys166Asn) | M | Damaging | Damaging | Damaging | Damaging | – | Scaini et al. [38] | 1/21 |
Exon 5 | c.502C > T | p.(Arg168Cys) | M | Damaging | Damaging | Damaging | Damaging | – | Flaschker et al. [34] | 1/21 |
Exon 5 | c.506A > G | p.(Tyr169Cys) | M | Damaging | Damaging | Damaging | Damaging | – | DB | 1/21 |
Exon 5 | c.595_596delAG | p.(Pro200Ter) | D | – | – | – | Damaging | – | Henneke et al. [25] | 4/21 |
Exon 5 | c.605C > T | p.(Ala202Val) | M | Damaging | Damaging | Damaging | Damaging | – | DB | 1/21 |
Exon 5 | c.620G > T | p.(Cys207Phe) | M | Damaging | Damaging | Non-damaging | Damaging | Uncertain significance PP2/PP3/PM2 | This studya | 1/21 |
Exon 5 | c.633G > C | p.(Lys211Asn) | M | Damaging | Damaging | Damaging | Damaging | Uncertain significance PP2/PP3/BP6 | This studya | 1/21 |
Exon 6 | c.641T > A | p.(Ile214Lys)a | M | Damaging | Damaging | Damaging | Damaging | – | Rodriguez-Pombo et al. [9] | 2/21 |
Exon 7 | c.743delC | p.(Ala248Glyfs * 6) | D | – | – | – | Damaging | – | Feier et al. [15] | 2/21 |
Exon 7 + Intron 7 | c.764_840 + 4del;840 + 9_ + 22delf | ? | D | – | – | – | Damaging | – | Feier et al. [15] | 2/21 |
Exon 8 | c.853C > T | p.(Arg285Ter)e | N | – | – | – | Damaging | – | Henneke et al. [25] | 1/21 |
DBT gene | ||||||||||
Exon 4 | c.346G > A | p.(Gly116Arg) | M | Damaging | Damaging | Damaging | Damaging | – | Scaini et al. [38] | 2/21 |
Exon 5 | c.442G > T | p.(Glu148Ter) | N | – | – | – | Damaging | Pathogenic PVS1/PP3/PP5/PM2 | This study | 2/21 |
Exon 9 | c.1150A > G | p.(Ser384Gly) | M | Non-damaging | Non-damaging | Non-damaging | Non-damaging | – | Tsuruta et al. [35]d | 2/21 |
Exon 10 | c.1250A > T | p.(Glu417Val) | M | Damaging | Damaging | Damaging | Damaging | Uncertain significance PP3/PM2 | This study | 1/21 |