SERPINA1 rs775982338: Understanding Alpha-1 Antitrypsin Deficiency
The rs775982338 variant is a rare genetic change located in the SERPINA1 gene. It is associated with alpha-1 antitrypsin deficiency, a condition that can affect lung and liver health.
What each genotype means
Typical SERPINA1 genotype
This genotype represents the common, non-variant sequence at this specific location in the SERPINA1 gene. It is not associated with the rare deficiency-causing deletion variant identified at this site.
This is the most common genotype observed in the general population.
Alpha-1 antitrypsin deficiency carrier
This genotype indicates you carry one copy of a rare deletion variant (often referred to as a null allele) in the SERPINA1 gene. You are likely to be unaffected by Alpha-1 Antitrypsin Deficiency unless you also carry another pathogenic variant on your other chromosome, and you should discuss any concerns about lung or liver health with your clinician.
This specific genotype is rare in the general population.
What is the rs775982338 Variant?
The rs775982338 variant is a specific genetic alteration found within the SERPINA1 gene on chromosome 14. In genetic databases, this variant is often described as a deletion of three nucleotides (AGA). Because it involves a change in the DNA sequence, it can potentially alter the production or function of the protein encoded by this gene. Genetic variants like this are identified through laboratory testing and are cataloged to help researchers understand their impact on human health. It is classified as a rare variant, meaning it is not commonly found in the general population compared to more frequent alleles like the S or Z alleles.
The Role of the SERPINA1 Gene
The SERPINA1 gene provides the blueprint for creating a protein called alpha-1 antitrypsin. This protein is primarily produced in the liver and travels through the bloodstream to protect various tissues, most notably the lungs. Its main job is to act as a protease inhibitor, which means it blocks the activity of certain enzymes that could otherwise damage healthy tissue. When the SERPINA1 gene contains a variant that disrupts this process, the body may produce insufficient or dysfunctional alpha-1 antitrypsin. This deficiency leaves the lungs more vulnerable to damage from environmental factors, such as smoke or pollutants, and can sometimes lead to liver complications.
Research and Clinical Significance
Research associates the rs775982338 variant with alpha-1 antitrypsin deficiency. Evidence for this association is considered moderate, as it is often studied in the context of identifying carrier status. Individuals who carry one copy of a deficiency-related variant are typically referred to as carriers. While carriers often do not show symptoms, they may have lower levels of the protective protein. The clinical impact of this specific variant can vary depending on whether an individual carries other variants in the same gene. Because alpha-1 antitrypsin deficiency is inherited in a codominant manner, the combination of different variants—or compound heterozygosity—plays a significant role in determining an individual's risk for developing lung or liver disease.
Population Frequency
The rs775982338 variant is considered rare across global populations. Because it is not a common polymorphism, it is not frequently observed in large-scale population studies. Its rarity means that most people do not carry this specific genetic change. When it is identified, it is usually through targeted diagnostic testing for individuals who have a family history of alpha-1 antitrypsin deficiency or who are undergoing evaluation for unexplained lung or liver symptoms.
What This Information Means for You
If you have been informed that you carry the rs775982338 variant, it is important to understand that this is not a medical diagnosis. Genetic information provides insight into your biological predispositions, but it does not dictate your health outcomes. You cannot use this information to diagnose yourself or others. If you are concerned about your risk for alpha-1 antitrypsin deficiency, the most appropriate step is to consult with a healthcare professional or a genetic counselor. They can help interpret your results in the context of your personal and family medical history. If you are currently taking medications for respiratory or liver conditions, always discuss your genetic status with your clinician or pharmacist before making any changes to your treatment plan.
How common is this variant?
The rs775982338 variant is rare across all major ancestral populations. It is not a common variant found in the general public.
Frequently asked questions
Is rs775982338 the same as the Z allele?
No, rs775982338 is a distinct variant from the Z allele (c.1096G>A). While both are associated with alpha-1 antitrypsin deficiency, they represent different genetic changes within the SERPINA1 gene.
Does having this variant mean I have lung disease?
Not necessarily. Being a carrier of a SERPINA1 variant does not mean you will develop lung disease. Many carriers remain healthy, though they may have lower levels of the alpha-1 antitrypsin protein.
Should I get tested for alpha-1 antitrypsin deficiency?
If you have a family history of the condition or unexplained respiratory issues, you should discuss testing with your doctor. They can determine if genetic testing is appropriate for your specific situation.
Can I change my genotype?
No, your genotype is determined at conception and cannot be changed. However, understanding your genetic status can help you and your doctor make informed decisions about your lifestyle and health monitoring.
Sources & further reading
Educational information only, last refreshed 9/26/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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This variant, known as Pi-Pittsburgh, is a rare mutation in the alpha-1 antitrypsin gene that affects anti-thrombin function.
The Pi*S allele of SERPINA1 that causes mild-to-moderate deficiency of alpha-1 antitrypsin.
The classical Pi*Z pathogenic allele in SERPINA1 leading to severe alpha-1 antitrypsin deficiency, lung emphysema, and liver disease.
Known as the S allele (p.Glu288Val), associated with mild alpha-1 antitrypsin deficiency when compounded with Z alleles.
The Z allele (E342K) of the SERPINA1 gene is the most common cause of severe alpha-1 antitrypsin deficiency, which can lead to lung and liver disease.
Rare deficiency null allele (Pi*Null Granite Falls) in SERPINA1 conferring carrier status for severe alpha-1 antitrypsin deficiency.