Journal: JCEM Case Reports
Article Title: A Germline ZFX Missense Variant in a Patient With Primary Hyperparathyroidism
doi: 10.1210/jcemcr/luae115
Figure Lengend Snippet: Predicted protein consequence of germline and somatic ZFX missense variants in the present work and related studies, and regional missense constraint analysis. A, Schematic of protein domain structure of ZFX transcription factor (Uniprot P17010) (not to scale). N-terminal Zfx/Zfy transcriptional activator domain (InterPro IPR006794) encompasses residues 70 to 410, shown in blue (not to scale). Individual C2H2 zinc finger domains (InterPro IPR006794), 13 in total, shown in yellow. ZFX residues 747 to 775 comprise zinc finger 12, and residues 776 to 803 comprise zinc finger 13. Individual residues shown in red font altered by germline and/or somatic ZFX missense variants indicated below by black arrows (3, 4) (see also Table 2). B, GnomAD v2.1.1 regional missense constraint analysis with legend indicating color coding of missense observed/expected (o/e) ratio from 0.0 to 1.0+ (from gnomAD browser [Broad Institute]). Gray (ZFX residues Met1 to Val161), o/e ratio 0.9261, P value = not significant; orange (ZFX residues Val161 to Ser 646), o/e ratio 0.4850, P value = 1.000e-12; dark red (ZFX residues Ser646 to Pro805 includes the C-terminal portion of zinc finger 8 (residues 633-661) through the C-terminus of ZFX), o/e ratio 0.1561, P value = 1.435e-11.
Article Snippet: Individual C2H2 zinc finger domains (InterPro IPR006794), 13 in total, shown in yellow.
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