Gene | MPL |
Variant | missense |
Amino Acid Change | S505N |
Transcript ID (GRCh37/hg19) | ENST00000372470 |
Codon | 505 |
Exon | 10 |
Genomic Coordinates (GRCh37/hg19) | 1:43814979-43814979 |
COSMIC ID | 27286 |
Germline/Somatic? | Somatic |
Tumor Type | Primary Site |
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The MPL p.S505N mutation is a recurrent mutation in some myeloproliferative and/or myeloproliferative/myelodysplastic disorders. It has also been reported in familial essential thrombocythemia. Biochemical studies of this variant have shown that it leads to moderate activation of downstream pathways including MEK-1/-2 and STAT5, which represent potentially targetable pathways.