Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain.
Bottom Line: Clinical characteristics and survival of 117 affected members with mutations in the converter domain of MYH7 were compared with 409 patients described in the literature with mutations in the same region.There were significant differences in the outcome between mutation: Ile736Thr had fewer events than other mutations in the region (p=0.01), while Arg719Gln (p<0.01) had reduced event-free survival.Mutations in the converter region are generally associated with adverse prognosis although there are differences between mutations.
Affiliation: Health in Code, A Coruña, Spain.Show MeSH
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Mentions: This hypothesis came from the evaluation of informative families carrying mutations in one of the most relevant functional domains of β myosin heavy chain: the converter region, located between amino acids 709–777 of the protein.7Figure 1 summarises one of those families, described below, characterised by malignant disease with a marked phenotypical variability.