Table 2 List of mutations identified in the current study
From: Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population
BTD mutation | Physical position (Hg19) | dbSNP | ARUP classification | ClinVar | HGMD | MAF | gnomAD total frequency | TW biobank | SIFT | Polyphen − 2 | ACMG criteria |
|---|---|---|---|---|---|---|---|---|---|---|---|
c.460-1G > A | chr3:15685822 | NA | NA | NA | NA | NA | NA | NA | NA | NA | Pathogenic (PVS1 PM2 PM3) |
c.1250_1251TC > AG (p.V417E) | chr3:15686613-chr3:15686614 | rs750006399 / rs764811197 | NA | NA | NA | 0.0002718 (all East Asian) | 0.00001989 | 0.000989 | D | PD | Likely pathogenic (PM2 PM3 PP3 PP4) |
c.1306G > A (p.E436K) | chr3:15686669 | rs749460715 | NA | Likely pathogenic / VUS | NA | 0.0004510 (all East Asian) | 0.00003182 | 0.000989 | D | PD | Likely pathogenic (PM2 PM3 PP3 PP5) |
c.1361A > G (p.Y454C) | chr3:15686724 | rs397514345 | Pathogenic | Likely pathogenic / Pathogenic / VUS | DM | 0.002058 (all South Asian) | 0.0002625 | NA | D | PD | Likely pathogenic (PM2 PM3 PM5 PP3 PP5) |
c.1382 T > C (p.V461D) | chr3:15686745 | NA | NA | NA | NA | NA | NA | NA | T | B | Likely Pathogenic (PM2 PM3 PP3 PP4) |
c.1384delA (p.R462Gfs) | chr3:15686747–15,686,747 | rs397514420 | Pathogenic | Pathogenic | DM | 0.0001087 (all East Asian) | 0.000007955 | NA | NA | NA | Likely Pathogenic (PVS1 PM2 PM3 PP4 PP5) |