Loss-of-Function Variants in SUPT5H as Modifying Factors in Beta-Thalassemia
Abstract
:1. Introduction
2. SUPT5H Gene and hSpt5 Protein: Structure and Function
3. Molecular SUPT5H Variants Reported
4. In Vitro Studies of SUPT5H LoF
5. Hematologic Phenotype of Carriers of LoF SUPT5H Variants
6. Conclusions
Supplementary Materials
Author Contributions
Funding
Acknowledgments
Conflicts of Interest
References
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Nr. | HGVS Annotation | Molecular Effect | In Silico Prediction * | Description | Etnic Origin | GnomAD Allele Frequency # | Reference |
---|---|---|---|---|---|---|---|
1 | c.142G>T | p.Glu48* | nonsense | Chinese | [4] | ||
2 | c.193C>T | p.Arg65* | nonsense | Chinese | 7.15 × 10−7 | [15] | |
3 | c.397C>T | p.Arg133* | nonsense | Chinese | 3.05 × 10−6 | [17] | |
4 | c.458+1G>A | 1.00 | Donor loss | Dutch | [3] | ||
5 | c.631C>T | p.Gln211* | nonsense | Chinese | [4] | ||
6 | c.817delC | p.Leu273* | nonsense | French | [3] | ||
7 | c.1195C>T | p.Gln399* | nonsense | Chinese | [16] | ||
8 | c.1374+2T>C | 0.71 | Donor loss | Greek | [3] | ||
9 | c.1405delA | p.Arg469Glufs*10 | Frameshift | Chinese | [4] | ||
10 | c.1741_1744dupAACC | p.Arg582Glnfs*21 | Frameshift | Greek | [3] | ||
11 | c.1782_1785delCCAT | p.Ile594Metfs*2 | Frameshift | Chinese? | [3] | ||
12 | c.1789A>T | p.Leu597* | nonsense | ? | [11] | ||
13 | c.1855C>T | p.Arg619* | nonsense | ? | [4] | ||
14 | c.1901dupG | p.Met635Hisfs*19 | Frameshift | Chinese | [4] | ||
15 | c.1979delG | p.Gly660Valfs*6 | Frameshift | Dutch | [3] | ||
16 | c.1993_1994delTA | p.Met665Glufs*19 | Frameshift | ? | [11] | ||
17 | c.2245C>T | p.Arg749Trp | 0.69 | Donor gain | ? | 2.40 × 10−6 | [11] |
18 | c.2247delG | p.Leu750Serfs*11 | Frameshift | ? | [11] | ||
19 | c.2259-3C>A | 0.09 | - | Dutch | [3] | ||
20 | c.2368C>T | p.Gln790* | nonsense | French | [10] | ||
21 | c.2507A>G | p.Tyr836Cys | Alternative splicing | ? | [11] | ||
22 | c.2725delC | p.Gln909Argfs*45 | Frameshift | Dutch | [3] | ||
23 | c.2823_2850dup | p.Ser951* | nonsense | Chinese | [4] | ||
24 | c.3032_3033delTG | p.Met1011Metfs*9 | Frameshift | Chinese | [17] | ||
25 | c.3034T>A | p.Cys1012Ser | 0.02 | - | ? | [11] | |
26 | EXON 21 -2 A>G | Splice acceptor | ? | [11] | |||
27 | p.Glu455Aspfs*23 | Frameshift | ? | [11] | |||
28 | del(chr19:39936531-40030719) | ? | Chinese | [4] |
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Harteveld, C.L.; Achour, A.; Fairuz Mohd Hasan, N.F.; Legebeke, J.; Arkesteijn, S.J.G.; Huurne, J.t.; Verschuren, M.; Bhagwandien-Bisoen, S.; Schaap, R.; Vijfhuizen, L.; et al. Loss-of-Function Variants in SUPT5H as Modifying Factors in Beta-Thalassemia. Int. J. Mol. Sci. 2024, 25, 8928. https://doi.org/10.3390/ijms25168928
Harteveld CL, Achour A, Fairuz Mohd Hasan NF, Legebeke J, Arkesteijn SJG, Huurne Jt, Verschuren M, Bhagwandien-Bisoen S, Schaap R, Vijfhuizen L, et al. Loss-of-Function Variants in SUPT5H as Modifying Factors in Beta-Thalassemia. International Journal of Molecular Sciences. 2024; 25(16):8928. https://doi.org/10.3390/ijms25168928
Chicago/Turabian StyleHarteveld, Cornelis L., Ahlem Achour, Nik Fatma Fairuz Mohd Hasan, Jelmer Legebeke, Sandra J. G. Arkesteijn, Jeanet ter Huurne, Maaike Verschuren, Sharda Bhagwandien-Bisoen, Rianne Schaap, Linda Vijfhuizen, and et al. 2024. "Loss-of-Function Variants in SUPT5H as Modifying Factors in Beta-Thalassemia" International Journal of Molecular Sciences 25, no. 16: 8928. https://doi.org/10.3390/ijms25168928