Gene Detail

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Gene Symbol MPL
Synonyms C-MPL | CD110 | MPLV | THCYT2 | THPOR | TPOR
Gene Description MPL, MPL proto-oncogene, thrombopoietin receptor, binds the cytokine, thrombopoietin, to induce signaling of JAK2 and TYK2 to activate several signal transduction pathways to control blood cell development (PMID: 16834459, PMID: 28408900). MPL mutations are often found in myeloproliferative neoplasms (PMID: 27727468, PMID: 31858134, PMID: 31750750).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
act mut unknown gain of function MPL act mut indicates that this variant results in a gain of function in the Mpl protein. However, the specific amino acid change has not been identified.
inact mut unknown loss of function MPL inact mut indicates that this variant results in a loss of function of the Mpl protein. However, the specific amino acid change has not been identified.
mutant unknown unknown MPL mutant indicates an unspecified mutation in the MPL gene.
F126fs frameshift loss of function - predicted MPL F126fs results in a change in the amino acid sequence of the Mpl protein beginning at aa 126 of 635, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), F126fs is predicted to lead to a loss of Mpl protein function.
H620fs frameshift unknown MPL H620fs results in a change in the amino acid sequence of the Mpl protein at aa 620 of 635, likely resulting in premature truncation of the functional protein (UniProt.org). H620fs has not been characterized in the scientific literature and therefore, its effect on Mpl protein function is unknown (PubMed, Mar 2020).
L571fs frameshift unknown MPL L571fs results in a change in the amino acid sequence of the Mpl protein beginning at aa 571 of 635, likely resulting in premature truncation of the functional protein (UniProt.org). L571fs has not been characterized in the scientific literature and therefore, its effect on Mpl protein function is unknown (PubMed, Jul 2020).