NLRP3 rs35829419 (Q703K): What Your Genotype Means

NLRP3 rs35829419 is a genetic variant in the NLRP3 gene, which helps form part of the NLRP3 inflammasome—an immune complex involved in responding to cellular stress and other danger signals.

The variant is commonly called Q703K or Q705K. These names describe the same amino-acid change using different versions of the NLRP3 protein. Researchers have studied it for possible effects on inflammasome activity and inflammatory conditions, but its clinical significance remains uncertain.

C is the reference allele and A is the variant allele. In the relevant transcript, the change is written c.2107C>A, or p.Gln703Lys [R].

Quick Answer: What Does NLRP3 rs35829419 Mean?

The rs35829419 variant changes one letter in the NLRP3 gene. The A allele changes the protein’s amino acid from glutamine (Q) to lysine (K). This is why the variant is called Q703K in one protein reference and Q705K in another [R].

Genotype	Amino-acid form	What the genotype shows
CC	Q/Q	No A variant allele, reference
AC	Q/K	One A variant allele
AA	K/K	Two A variant alleles

These genotypes describe the DNA letters found at rs35829419. They do not measure your current inflammation, cytokine levels, or immune-system activity.

What Does the NLRP3 Gene Do?

The NLRP3 gene provides instructions for making a protein that can act as a sensor inside immune cells. When activated by certain cellular or microbial signals, NLRP3 can assemble with other proteins, including ASC and caspase-1, to form the NLRP3 inflammasome.

This complex helps activate caspase-1, which processes the signaling molecules IL-1β and IL-18 into active forms. Inflammasome activation can also contribute to a form of inflammatory cell death called pyroptosis. These processes are part of innate immunity: the body’s rapid response to potential threats [R].

Inflammation is a normal part of immune defense. Its effects depend on the trigger, tissue, and broader biological context.

What Is the Q703K or Q705K Change?

The A allele at rs35829419 creates a missense variant, meaning it changes one amino acid in the NLRP3 protein. The variant is called Q703K or Q705K because amino-acid numbering differs between protein references. NCBI’s variant record lists both forms [R].

The variant has been studied as a possible influence on inflammasome signaling. It is sometimes described as a low-penetrance or risk-modifying variant, but that does not mean that every carrier develops inflammation or an autoinflammatory condition. Its effect in people remains unsettled.

What Does Research Say About NLRP3 rs35829419?

Research findings do not point to one simple interpretation.

In an experimental study, researchers introduced the Q705K form of NLRP3 into a human monocytic cell line. Those cells produced more IL-1β and IL-18 than cells with the reference form, including after stimulation. This supports a possible functional effect in that laboratory model, but it does not establish the same effect in every person carrying the variant [R].

A later international study of people evaluated for recurrent fever and related autoinflammatory conditions found a higher frequency of Q703K in some patient groups. However, its comparison of immune cells from a small number of asymptomatic carriers and non-carriers did not find a significant difference in IL-1β production. The researchers emphasized that the variant’s clinical significance and penetrance were not clear [R].

A 2021 systematic review and meta-analysis of 12 case-control studies did not establish a consistent overall association between rs35829419 and autoimmune disease risk. Some subgroup analyses suggested a possible association with rheumatoid arthritis, but the authors noted that more research was needed [R].

Taken together, the evidence suggests a biologically interesting variant with conflicting functional and disease-association results. It does not provide a reliable standalone prediction of inflammatory disease.

Does Q703K Cause CAPS?

A result showing rs35829419 A does not diagnose cryopyrin-associated periodic syndrome (CAPS). Some studies have discussed Q703K in connection with CAPS and other recurrent-fever conditions, but the variant is also found in people without those diagnoses. Its presence alone cannot establish that someone has CAPS or explain symptoms.

CAPS and other autoinflammatory conditions are evaluated using a person’s clinical history, examination, and appropriate clinical testing. A raw DNA result for one common variant cannot replace that evaluation.

What Does Your Genotype Tell You?

CC: No A Variant Allele

CC means that the raw DNA file shows two C alleles at rs35829419. This genotype does not include the Q703K/Q705K amino-acid change at this position.

It does not rule out inflammatory conditions or describe the overall activity of the NLRP3 pathway. Other genetic and non-genetic factors affect immune responses.

AC: One A Variant Allele

AC means that one copy has the reference C allele and the other has the A variant allele. This is a heterozygous result.

It identifies one copy of the amino-acid substitution, but does not show whether your inflammasome is currently more active or predict whether you will develop an inflammatory condition.

AA: Two A Variant Alleles

AA means that both copies have the A variant allele at rs35829419.

Because study results do not support a clear, consistent relationship between this genotype and an individual’s immune function or disease risk, AA should not be interpreted as proof of excessive inflammation or an autoinflammatory disease.

What Your Result Cannot Tell You

An rs35829419 result cannot directly measure:

• current NLRP3 inflammasome activity;

• IL-1β or IL-18 levels;

• whether you have an autoinflammatory or autoimmune condition;

• whether a symptom is caused by NLRP3;

• how your immune system will respond to a specific trigger.'

GenesUnveiled GeneExplorer identifies the genotype recorded in a supported raw DNA file. It does not measure immune activity or diagnose disease.

Explore NLRP3 in GeneExplorer

You can review the NLRP3 GeneExplorer page to learn more about the gene and rs35829419. If the marker is present and readable in your raw DNA file, GeneExplorer can show the genotype recorded at that position.

The result is best understood as one piece of genetic information—not a measure of your current inflammation or a medical diagnosis.