Supplementary Figure 2: Whole-exome sequencing identifies a de novo threonine-to-serine conversion in a highly conserved region of NLRC4 predicted to be pathogenic. | Nature Genetics

Supplementary Figure 2: Whole-exome sequencing identifies a de novo threonine-to-serine conversion in a highly conserved region of NLRC4 predicted to be pathogenic.

From: An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome

Supplementary Figure 2

(a) Schematic of whole-exome sequence analysis. *, 105 samples processed in the same batch as the control for technical artifacts. GATK, Genome Analysis Toolkit; MAF, minor allele frequency. (b) Position of the affected patient’s T337S conversion in a highly conserved region of NLRC4. (c) Analysis of the frequency of the T337S mutation in the dbSNP and NHLBI Exome Sequencing Project (ESP)18 databases. The effect of the mutation was also predicted using Genomic Evolutionary Rate Profiling (GERP)17, MutationTaster14, Sorting Intolerant From Tolerant (SIFT)15 and Polymorphism Phenotyping, v2 (PolyPhen-2)16 analyses. (d) Sequence chromatographs of the patient and her parents showing the de novo c.1009A>T, p.Thr337Ser mutation in NLRC4.

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