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Abstract
Hereditary antithrombin (AT) deficiency is a rare autosomal dominant disorder characterized by decreased AT activity in plasma and predisposition to recurrent venous thromboembolism (VTE). Hereditary AT deficiency is caused by mutations in the SERPINC1 gene.
We investigated the variant AT protein, p.Thr147Ala, found in six women of African origin. It results from a single nucleotide polymorphism (SNP) rs2227606 in the SERPINC1 gene, with minor allele frequency of 0.67% in Africans and absent in all other studied populations. In silico prediction tools for pathogenicity show conflicting results.
We investigated the variant AT protein, p.Thr147Ala, found in six women of African origin. It results from a single nucleotide polymorphism (SNP) rs2227606 in the SERPINC1 gene, with minor allele frequency of 0.67% in Africans and absent in all other studied populations. In silico prediction tools for pathogenicity show conflicting results.
| Original language | English |
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| Publication status | Unpublished - 2017 |
| Event | International Society on Thrombosis and Haemostasis 2017 CONGRES - Berlijn, Germany Duration: 8 Jul 2017 → 13 Jul 2017 http://www.isth2017.org/ |
Conference
| Conference | International Society on Thrombosis and Haemostasis 2017 CONGRES |
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| Country/Territory | Germany |
| City | Berlijn |
| Period | 8/07/17 → 13/07/17 |
| Internet address |
Research output
- 1 Meeting abstract (Journal)
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Antithrombin p.Thr147Ala: not just another SNP?
Orlando, C., Pareyn, I., Schelpe, A-S., Vanhoorelbeke, K. & Jochmans, K., 2017, In: Research and Practice in Thrombosis and Haemostasis. 1, Suppl 1, 1 p.Research output: Contribution to journal › Meeting abstract (Journal)