Nlrp3^M6Btlr

The molecular lesion is an A to G transition at base pair 59,565,850 (v38) on chromosome 11, or base pair 24,282 in the GenBank genomic region NC_000077. This corresponds to nucleotide 3,063 in the mRNA sequence NM_145827, within exon 4 of 10 total exons. The mutation results in an aspartic acid (D) to glycine (G) substitution at position 946 (D946G) in the NLRP3 protein, and is strongly predicted by Polyphen-2 to be benign (score = 0.017). (J:216047)