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. 2017 Aug 28;114(37):E7766–E7775. doi: 10.1073/pnas.1702946114

Fig. 2.

Fig. 2.

Mutation analysis. (A) Genome-wide linkage analysis with SNP markers defined a peak with a maximum LOD score of 2.94 (arrow) on chromosome 1q43-1q44 between markers rs974893 and rs2027432. (B) Fine mapping with novel microsatellite markers narrowed the DFNA34 interval to 3.93 Mb with a maximum LOD score of 3.51 between markers D1S102 and D1NIH10. Coordinates are based on the GRCh38 human reference sequence. (C) Sequence chromatogram showing the heterozygous transition c.2753G > A (p.Arg918Gln) of NLRP3 found in affected individuals. Nucleotide numbering is based on cDNA sequence (GenBank accession no. NM_001243133.1). (D) Arginine-918 is located in the LRR domain of NLRP3.