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SERPINA1

From SNPedia

is agene
is mentioned by
Full nameserpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
EntrezGene5265
PheGenI5265
VariationViewer5265
ClinVarSERPINA1
GeneCardsSERPINA1
dbSNP5265
DiseasesSERPINA1
SADR5265
HugeNav5265
wikipediaSERPINA1
googleSERPINA1
gopubmedSERPINA1
EVSSERPINA1
HEFalMpSERPINA1
MyGene2SERPINA1
23andMeSERPINA1
UniProtP01009
EnsemblENSG00000197249
OMIM107400
# SNPs51
 Max MagnitudeChromosome positionSummary
rs11558261394,382,823
rs1183294,377,228
rs1184695994,379,979
rs121912712094,378,547
rs121912713594,378,561Pi-Pittsburgh; anti-thrombin
rs121912714094,380,949rare Pi-P variant
rs1243160094,388,540
rs124316494,378,133
rs124316694,377,481
rs1303094,378,506Pi-M M3 variant
rs175802.594,380,925Pi-S allele
rs1775176994,390,320
rs1802959094,378,628
rs198061694,386,321
rs199422209394,378,528
rs199422210094,382,686
rs199422211394,381,067
rs20546094,382,814
rs223965194,382,210
rs267606950394,382,686
rs2749531094,386,355
rs275393494,384,993
rs285425494,388,536
rs28929470094,381,049
rs28929471094,379,508
rs28929472394,380,949rare Pi-P variant
rs28929473394,378,575
rs289294745.594,378,610Pi-Z allele
rs28929475094,378,628
rs28931568494,382,966
rs28931569494,383,044
rs28931570094,383,051
rs28931571094,382,823
rs28931572394,382,891
rs374831694,387,527
rs374831894,387,160
rs55819880394,383,008
rs617618693.194,378,529
rs657542494,388,515
rs6647094,381,078Pi-M allele
rs709932094,382,864
rs71515261.194,397,299SNP in 5'UTR of SERPINA1
rs751235320094,382,591
rs764220898094,381,043
rs764325655094,378,547
rs775982338394,383,009
rs800473894,390,577
rs801012194,384,277
rs86322526394,383,010
rs86462204394,378,591
... further results


The SERPINA1 gene encodes the alpha-1 antitrypsin (AAT) protein, also known as protease inhibitor (PI). Over 75 alleles (variants) are known for AAT/Pi, however with few exceptions, most are considered relatively benign. The variants that are considered pathologic predispose individuals (especially smokers) to early onset lung disease, specifically chronic obstructive pulmonary disease, but also, potentially, emphysema and liver cirrhosis.

There are four common variants of AAT, which were originally named based on how quickly the corresponding proteins moved in an electrophoretic field (F = fast, M = medium, S = slow, Z = very slow). The PiM allele is the normal/wild-type, and is the most common. The PiZ allele is a deficiency variant found primarily in Northern Europeans, while the PiS deficiency variant is more common in South-West Europe. Discovered over 50 years ago, the PiZ variant is the most common of the medically significant null variants, and it associated with significant AAT deficiency, lung and liver disease, though there is considerable disparity in clinical phenotype.[PMID 15115878OA-icon.png]

These SERPINA1 variants are determined by the following SNPs:


According to the Alpha-1 Foundation, 95% of people clinically identified with Alpha-1 deficiency have two Z alleles (ZZ). Current evidence suggests that there are at least 100,000 people with Alpha-1 (ZZ) in the United States. Another deficient SNP combination is SZ, although people with this combination are less likely to get lung or liver problems than those with two Z alleles.

ClinGen has issued an Actionability recommendation for carriers of PiS and PiZ alleles which can be found here.

Much rarer A1AT SERPINA1 null variants include: