The S505A thrombopoietin receptor mutation in childhood hereditary thrombocytosis and essential thrombocythemia is S505N: single letter amino acid code matters.

Defour, Jean-Philippe;Levy, Gabriel;Leroy, Emilie;Smith, Steven O;Constantinescu, Stefan
(2019) Leukemia — Vol. 33, n° 2, p. 563-564 (2019)

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(en) Dear Editor, Myeloproliferative neoplasms (MPNs) are rare diseases in children [1] when compared to adults [2]. Targeted sequencing revealed differences in the mutational landscape of pediatric and adult MPNs [1]. Children exhibit a lower frequency of mutations in the MPN driver genes JAK2, MPL, and CALR, and a much higher proportion of children exhibit no mutation among the 104 classically involved genes; these children exhibiting a trend towards essential thrombocythemia (ET) [1]. We were surprised to read about an activating thrombopoietin receptor (TpoR/Mpl) S505A transmembrane domain (TM) mutation in childhood hereditary thrombocytosis (HT) and ET [3–5]. [...]
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Defour, J.-P., Levy, G., Leroy, E., Smith, S. O., & Constantinescu, S. (2019). The S505A thrombopoietin receptor mutation in childhood hereditary thrombocytosis and essential thrombocythemia is S505N: single letter amino acid code matters. Leukemia, 33(2), 563-564. https://doi.org/10.1038/s41375-018-0356-x (Original work published 2019)