Transthyretin (TTR) pV142I (rs76992529-A) is one of the 113 variants in the human TTR gene associated with systemic amyloidosis. It results from a G to A transition at a CG dinucleotide in the codon for amino acid 122 of the mature protein (TTR V122I). The allele frequency is 0.0173 in African Americans.
The prevalence and distribution of the amyloidogenic transthyretin (TTR) V122I allele in Africa / Jacobson, Daniel R; Alexander, Alice A; Tagoe, Clement; Garvey, W. T; Williams, Scott M; Tishkoff, Sara; Modiano, David; Sirima, Sodiomon B; Kalidi, Issa; Toure, Amadou; Buxbaum, Joel N.. - In: MOLECULAR GENETICS & GENOMIC MEDICINE. - ISSN 2324-9269. - STAMPA. - 4:5(2016), pp. 548-556. [10.1002/mgg3.231]
The prevalence and distribution of the amyloidogenic transthyretin (TTR) V122I allele in Africa
MODIANO, David;
2016
Abstract
Transthyretin (TTR) pV142I (rs76992529-A) is one of the 113 variants in the human TTR gene associated with systemic amyloidosis. It results from a G to A transition at a CG dinucleotide in the codon for amino acid 122 of the mature protein (TTR V122I). The allele frequency is 0.0173 in African Americans.| File | Dimensione | Formato | |
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