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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)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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References Literature
Title
PMID
Journal
Year
IF
