Table 1.
Molecular and functional characteristics of reported TPK1 mutations.
| ID | TPK1 Mutations | Predicted Effect on Protein | TPP Levels | Western Blot | Reference |
|---|---|---|---|---|---|
| P1 | c.[148A>C];[501+4A>T] | p.[Asn50His];[Val119_Pro167del] | N/A | N/A | Mayr et al. [6] |
| P2 | c.[148A>C];[501+4A>T] | p.[Asn50His];[Val119_Pro167del] | 68 * (B) | ↓hTPK1 | Mayr et al. [6] |
| P3 | c.[119T>C];[119T>C] | p.[Leu40Pro)];[Leu40Pro] | 50.4 * (B) | ↓hTPK1 | Mayr et al. [6] |
| P4 | c.[119T>C];[119T>C] | p.[Leu40Pro)];[(Leu40Pro] | N/A | N/A | Mayr et al. [6] |
| P5 | c.[179_182delGAGA];[656A>G] | p.[Arg60LysfsTer52];[Asn219Ser] | 96.9 * (B) | ↓hTPK1 | Mayr et al. [6] |
| P1 (P76 in [5]) |
c.[604T>G];[604T>G] | p.[Trp202Gly];[Trp202Gly] | N/A | N/A | Fraser et al. [8] |
| P2 (P77 in [5]) |
c.[604T>G];[604T>G] | p.[Trp202Gly];[Trp202Gly] | N/A | N/A | Fraser et al. [8] |
| P1 (P79 in [5]) |
c.[479C>T];[479C>T] | p.[Ser160Leu];[Ser160Leu] | 60.9 ^ (B) | Normal | Banka et al. [7] |
| P2 | c.[664G>C];[664G>C] | p.[Asp222His];[Asp222His] | 85.4 ^ (B) | ↓hTPK1 | Banka et al. [7] |
| N/A | c.[656A>G];deletion of exons 3 and 4 on mRNA studies | p.[Asn219Ser];[?] | N/A | N/A | Invernizzi et al. [9] |
| Proband | c.[119T>C];[119T>C] | p.[Leu40Pro];[Leu40Pro] | 32 ~ (P) | N/A | Mahajan et al. [10] |
| Sister | c.[119T>C];[119T>C] | p.[Leu40Pro];[Leu40Pro] | N/A | N/A | Mahajan et al. [10] |
| P78 | c.[365T>C];[365T>C] | p.[Ile122Thr];[Ile122Thr] | N/A | N/A | Ortigoza-Escobar et al. [5] |
| Proband | c.[258+1G>A];[426G>C] | p.[Leu142Phe];[?] | 35 † (B) | ↓hTPK1 | Present study |
| Brother | c.[258+1G>A];[426G>C] | p.[Leu142Phe];[?] | N/A | N/A | Present study |
Abbreviations: B, Blood; N/A, Not Available; P, Plasma; TPP, thiamine pyrophosphate. * Mayr et al. TPP reference range 132–271 nmol/L; ^ Banka et al. TPP reference range 132.2–271 nmol/L; ~ Mahajan et al. TPP reference range 38–122 ng/L; † Present study TPP reference range 67–265 nmol/L.