SERPINA1 Gene (Protein Coding)

Serpin Family A Member 1

GC14M094376
GIFtS:
50
The protein encoded by this gene is secreted and is a serine protease inhibitor whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. Defects in this gene can cause emphysema or liver disease. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] See more...

Aliases for SERPINA1 Gene

Aliases for SERPINA1 Gene

  • Serpin Family A Member 1 2 3 5
  • Serpin Peptidase Inhibitor, Clade A (Alpha-1 Antiproteinase, Antitrypsin), Member 1 2 3
  • Protease Inhibitor 1 (Anti-Elastase), Alpha-1-Antitrypsin 2 3
  • Alpha-1 Protease Inhibitor 3 4
  • Alpha-1-Antiproteinase 3 4
  • Alpha-1-Antitrypsin 3 4
  • Serpin A1 3 4
  • AAT 3 4
  • PI 3 4
  • Serine (Or Cysteine) Proteinase Inhibitor, Clade A (Alpha-1 Antiproteinase, Antitrypsin), Member 1 2
  • Serpin Peptidase Inhibitor Clade A (Alpha-1antiproteinase, Antitrypsin) Member 1 3
  • Serine (Or Cysteine) Proteinase Inhibitor, Clade A, Member 1 3
  • Alpha-1-Antitrypsin Short Transcript Variant 1C4 3
  • Alpha-1-Antitrypsin Short Transcript Variant 1C5 3
  • Serpin Peptidase Inhibitor Clade A Member 1 3
  • Epididymis Secretory Sperm Binding Protein 3
  • Alpha-1-Antitrypsin Null 3
  • Alpha-1 Antitrypsin 3
  • Alpha1AT 3
  • PRO2275 3
  • A1AT 3
  • NNIF 3
  • A1A 3
  • PI1 3

External Ids for SERPINA1 Gene

Previous HGNC Symbols for SERPINA1 Gene

  • PI

Previous GeneCards Identifiers for SERPINA1 Gene

  • GC14M092351
  • GC14M088661
  • GC14M092834
  • GC14M093914
  • GC14M094843
  • GC14M075022

Summaries for SERPINA1 Gene

Entrez Gene Summary for SERPINA1 Gene

  • The protein encoded by this gene is secreted and is a serine protease inhibitor whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. Defects in this gene can cause emphysema or liver disease. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for SERPINA1 Gene

SERPINA1 (Serpin Family A Member 1) is a Protein Coding gene. Diseases associated with SERPINA1 include Alpha-1-Antitrypsin Deficiency and Hemorrhagic Disease Due To Alpha-1-Antitrypsin Pittsburgh Mutation. Among its related pathways are Vesicle-mediated transport and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include identical protein binding and protease binding. An important paralog of this gene is SERPINA2.

UniProtKB/Swiss-Prot Summary for SERPINA1 Gene

  • Inhibitor of serine proteases. Its primary target is elastase, but it also has a moderate affinity for plasmin and thrombin. Irreversibly inhibits trypsin, chymotrypsin and plasminogen activator. The aberrant form inhibits insulin-induced NO synthesis in platelets, decreases coagulation time and has proteolytic activity against insulin and plasmin.
  • Short peptide from AAT: reversible chymotrypsin inhibitor. It also inhibits elastase, but not trypsin. Its major physiological function is the protection of the lower respiratory tract against proteolytic destruction by human leukocyte elastase (HLE).

Gene Wiki entry for SERPINA1 Gene

Additional gene information for SERPINA1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SERPINA1 Gene

Genomics for SERPINA1 Gene

GeneHancer (GH) Regulatory Elements for SERPINA1 Gene

Promoters and enhancers for SERPINA1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SERPINA1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SERPINA1 gene promoter:
  • AP-1
  • TBP

Genomic Locations for SERPINA1 Gene

Genomic Locations for SERPINA1 Gene
chr14:94,376,747-94,390,693
(GRCh38/hg38)
Size:
13,947 bases
Orientation:
Minus strand
chr14:94,843,084-94,857,030
(GRCh37/hg19)
Size:
13,947 bases
Orientation:
Minus strand

Genomic View for SERPINA1 Gene

Genes around SERPINA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SERPINA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SERPINA1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SERPINA1 Gene

Proteins for SERPINA1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for SERPINA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P01009-A1AT_HUMAN
    Recommended name:
    Alpha-1-antitrypsin
    Protein Accession:
    P01009
    Secondary Accessions:
    • A6PX14
    • B2RDQ8
    • Q0PVP5
    • Q13672
    • Q53XB8
    • Q5U0M1
    • Q7M4R2
    • Q86U18
    • Q86U19
    • Q96BF9
    • Q96ES1
    • Q9P1P0
    • Q9UCE6
    • Q9UCM3

    Protein attributes for SERPINA1 Gene

    Size:
    418 amino acids
    Molecular mass:
    46737 Da
    Quaternary structure:
    • The variants S and Z interact with CANX AND PDIA3.
    Miscellaneous:
    • The aberrant form is found in the plasma of chronic smokers, and persists after smoking is ceased. It can still be found ten years after smoking has ceased.
    SequenceCaution:
    • Sequence=CAD62334.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAD62585.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SERPINA1 Gene

    Alternative splice isoforms for SERPINA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SERPINA1 Gene

Protein Expression for SERPINA1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SERPINA1 Gene

  • N-glycosylated. Differential glycosylation produces a number of isoforms. N-linked glycan at Asn-107 is alternatively di-antennary, tri-antennary or tetra-antennary. The glycan at Asn-70 is di-antennary with trace amounts of tri-antennary. Glycan at Asn-271 is exclusively di-antennary. Structure of glycans at Asn-70 and Asn-271 is Hex5HexNAc4. The structure of the antennae is Neu5Ac(alpha1-6)Gal(beta1-4)GlcNAc attached to the core structure Man(alpha1-6)[Man(alpha1-3)]Man(beta1-4)GlcNAc(beta1-4)GlcNAc. Some antennae are fucosylated, which forms a Lewis-X determinant.
  • Proteolytic processing may yield the truncated form that ranges from Asp-30 to Lys-418.
  • (Microbial infection) Proteolytically processed by Staphylococcus aureus seryl, cysteinyl, and metallo-proteases.
  • Glycosylation at Asn70, Asn107, and Asn271
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • A1AT_HUMAN (20)

Other Protein References for SERPINA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Protein Products

No data available for DME Specific Peptides for SERPINA1 Gene

Domains & Families for SERPINA1 Gene

Gene Families for SERPINA1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Candidate cardiovascular disease genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for SERPINA1 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SERPINA1 Gene

GenScript: Design optimal peptide antigens:
  • Serpin A1 (A1AT_HUMAN)
  • Alpha-1-antitrypsin null variant (C1KH65_HUMAN)
  • Alpha-1-antitrypsin MBrescia variant (Q2L9S7_HUMAN)
  • Alpha-1-antitrypsin M-variant (Q9UHK1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P01009

UniProtKB/Swiss-Prot:

A1AT_HUMAN :
  • The reactive center loop (RCL) extends out from the body of the protein and directs binding to the target protease. The protease cleaves the serpin at the reactive site within the RCL, establishing a covalent linkage between the carboxyl group of the serpin reactive site and the serine hydroxyl of the protease. The resulting inactive serpin-protease complex is highly stable.
  • Belongs to the serpin family.
Domain:
  • The reactive center loop (RCL) extends out from the body of the protein and directs binding to the target protease. The protease cleaves the serpin at the reactive site within the RCL, establishing a covalent linkage between the carboxyl group of the serpin reactive site and the serine hydroxyl of the protease. The resulting inactive serpin-protease complex is highly stable.
Family:
  • Belongs to the serpin family.
genes like me logo Genes that share domains with SERPINA1: view

Function for SERPINA1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for SERPINA1 Gene

UniProtKB/Swiss-Prot Function:
Inhibitor of serine proteases. Its primary target is elastase, but it also has a moderate affinity for plasmin and thrombin. Irreversibly inhibits trypsin, chymotrypsin and plasminogen activator. The aberrant form inhibits insulin-induced NO synthesis in platelets, decreases coagulation time and has proteolytic activity against insulin and plasmin.
UniProtKB/Swiss-Prot Function:
Short peptide from AAT: reversible chymotrypsin inhibitor. It also inhibits elastase, but not trypsin. Its major physiological function is the protection of the lower respiratory tract against proteolytic destruction by human leukocyte elastase (HLE).

Phenotypes From GWAS Catalog for SERPINA1 Gene

Gene Ontology (GO) - Molecular Function for SERPINA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IPI 15853774
GO:0004867 serine-type endopeptidase inhibitor activity NAS,IDA 12878203
GO:0005515 protein binding IPI 11057674
GO:0030414 peptidase inhibitor activity IEA --
GO:0042802 identical protein binding IPI 11057674
genes like me logo Genes that share ontologies with SERPINA1: view
genes like me logo Genes that share phenotypes with SERPINA1: view

Human Phenotype Ontology for SERPINA1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for SERPINA1 Gene

Localization for SERPINA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SERPINA1 Gene

Secreted. Endoplasmic reticulum. Note=The S and Z allele are not secreted effectively and accumulate intracellularly in the endoplasmic reticulum.
Short peptide from AAT: Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SERPINA1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
golgi apparatus 5
plasma membrane 2
cytoskeleton 2
nucleus 2
cytosol 2
lysosome 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SERPINA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IMP,IBA 16192646
GO:0005783 endoplasmic reticulum IEA,IDA 20477988
GO:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with SERPINA1: view

Pathways & Interactions for SERPINA1 Gene

genes like me logo Genes that share pathways with SERPINA1: view

SIGNOR curated interactions for SERPINA1 Gene

Activates:

Gene Ontology (GO) - Biological Process for SERPINA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002576 platelet degranulation TAS --
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0006953 acute-phase response IEA --
GO:0007596 blood coagulation IEA --
GO:0007599 hemostasis IEA --
genes like me logo Genes that share ontologies with SERPINA1: view

Drugs & Compounds for SERPINA1 Gene

Products:

  1. Drug

(48) Drugs for SERPINA1 Gene - From: DrugBank, ClinicalTrials, ApexBio, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 227
Serine Approved Nutra Full agonist, Agonist Weak endogenous glycine receptor agonist 1317
Pentetic acid Approved Pharma Carrier, substrate 153
Zinc Approved, Investigational Pharma Target 2741
zinc acetate Approved, Investigational Pharma Target 0

(19) Additional Compounds for SERPINA1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(2) ApexBio Compounds for SERPINA1 Gene

Compound Action Cas Number
alpha-1 antitrypsin fragment Protease inhibitor
alpha-1 antitrypsin fragment 235-243 [Homo sapiens]/[Papio hamadryas]/[Cercopithecus aethiops]
genes like me logo Genes that share compounds with SERPINA1: view

Transcripts for SERPINA1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for SERPINA1 Gene

(11) REFSEQ mRNAs :
(47) Additional mRNA sequences :
(2376) Selected AceView cDNA sequences:
(20) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SERPINA1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c · 6d · 6e · 6f ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a ·
SP1: -
SP2: - - - - - - - - -
SP3: - - - - -
SP4: - - - -
SP5: - - - -
SP6: - - - -
SP7: - - - - -
SP8: - - - -
SP9:
SP10: - - - - - -
SP11: - - - - - -
SP12: - - - - - - - -
SP13: - - - - -
SP14: -
SP15: -
SP16: - - - - - - -
SP17: - - - - - - -

ExUns: 9b ^ 10a · 10b · 10c ^ 11 ^ 12a · 12b
SP1: -
SP2: - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:

Relevant External Links for SERPINA1 Gene

GeneLoc Exon Structure for
SERPINA1
ECgene alternative splicing isoforms for
SERPINA1

Expression for SERPINA1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SERPINA1 Gene

mRNA expression in normal human tissues for SERPINA1 Gene
mRNA expression by GTEx for SERPINA1 GenemRNA expression by BioGPS for SERPINA1 Gene

mRNA differential expression in normal tissues according to GTEx for SERPINA1 Gene

This gene is overexpressed in Liver (x43.6) and Whole Blood (x5.8).

Protein differential expression in normal tissues from HIPED for SERPINA1 Gene

This gene is overexpressed in Vitreous humor (7.1) and Plasma (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SERPINA1 Gene



Protein tissue co-expression partners for SERPINA1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SERPINA1 Gene:

SERPINA1

SOURCE GeneReport for Unigene cluster for SERPINA1 Gene:

Hs.525557

mRNA Expression by UniProt/SwissProt for SERPINA1 Gene:

P01009-A1AT_HUMAN
Tissue specificity: Ubiquitous. Expressed in leukocytes and plasma.

Evidence on tissue expression from TISSUES for SERPINA1 Gene

  • Liver(5)
  • Blood(4.8)
  • Intestine(4.8)
  • Lung(4.7)
  • Bone marrow(4.5)
  • Nervous system(4.5)
  • Urine(4.4)
  • Pancreas(4.1)
  • Kidney(3.5)
  • Spleen(3.4)
  • Gall bladder(2.9)
  • Heart(2.9)
  • Stomach(2.8)
  • Lymph node(2.5)
  • Muscle(2.5)
  • Eye(2.2)
  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SERPINA1 Gene

Germ Layers:
  • endoderm
Systems:
  • digestive
  • respiratory
Regions:
Thorax:
  • lung
Abdomen:
  • liver
genes like me logo Genes that share expression patterns with SERPINA1: view

Orthologs for SERPINA1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SERPINA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia SERPINA1 33 32
  • 99.28 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia SERPINA1 33 32
  • 80.08 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia SERPINA1 33 32
  • 78.23 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Serpina1 32
  • 75.51 (n)
mouse
(Mus musculus)
 Mammalia Serpina1c 33 32
  • 74.03 (n)
 OneToMany
Serpina1b 33
  • 65 (a)
 OneToMany
Serpina1a 33
  • 65 (a)
 OneToMany
Serpina1d 33
  • 64 (a)
 OneToMany
Serpina1e 17 33
  • 63 (a)
Serpina1f 33
  • 35 (a)
 OneToMany
Gm46 33
  • 31 (a)
 OneToMany
oppossum
(Monodelphis domestica)
 Mammalia SERPINA1 33
  • 51 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia SERPINA1 33
  • 46 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves SERPINA5 32
  • 56.57 (n)
SERPINA4 33
  • 43 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia SERPINA1 33
  • 45 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia serpina1 32
  • 58.12 (n)
Str.4915 32
African clawed frog
(Xenopus laevis)
 Amphibia LOC397792 32
zebrafish
(Danio rerio)
 Actinopterygii serpina1l 33 32
  • 53.75 (n)
 ManyToMany
serpina1 33
  • 37 (a)
 ManyToMany
zgc:174260 33
  • 36 (a)
 ManyToMany
zgc:174259 33
  • 35 (a)
 ManyToMany
serpina7 33
  • 35 (a)
 ManyToMany
si:ch211-186e20.7 33
  • 34 (a)
 ManyToMany
si:ch211-186e20.2 33
  • 34 (a)
 ManyToMany
CR559930.2 33
  • 33 (a)
 ManyToMany
worm
(Caenorhabditis elegans)
 Secernentea srp-1 34
  • 28 (a)
Species where no ortholog for SERPINA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SERPINA1 Gene

ENSEMBL:
Gene Tree for SERPINA1 (if available)
TreeFam:
Gene Tree for SERPINA1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SERPINA1: view image

Paralogs for SERPINA1 Gene

Paralogs for SERPINA1 Gene

(36) SIMAP similar genes for SERPINA1 Gene using alignment to 6 proteins:

  • A1AT_HUMAN
  • G3V2B9_HUMAN
  • G3V387_HUMAN
  • G3V4I7_HUMAN
  • G3V544_HUMAN
  • G3V5R8_HUMAN
genes like me logo Genes that share paralogs with SERPINA1: view

Variants for SERPINA1 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Polymorphic Variants from UniProtKB/Swiss-Prot for SERPINA1 Gene

A1AT_HUMAN-P01009
The sequence shown is that of the M1V allele which is the most common form of PI (44 to 49%). Other frequent alleles are: M1A 20 to 23%; M2 10 to 11%; M3 14 to 19%.

Sequence variations from dbSNP and Humsavar for SERPINA1 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1049800 benign, likely-benign, not specified, Alpha-1-antitrypsin deficiency 94,380,948(-) A/G coding_sequence_variant, synonymous_variant
rs1051052 likely-benign, Alpha-1-antitrypsin deficiency 94,377,595(-) A/G 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1057516212 pathogenic, Alpha-1-antitrypsin deficiency 94,382,947(-) GTGAGTG/GTG coding_sequence_variant, frameshift
rs1057516448 likely-pathogenic, Alpha-1-antitrypsin deficiency 94,381,074(-) GG/G coding_sequence_variant, frameshift
rs1057516555 likely-pathogenic, Alpha-1-antitrypsin deficiency 94,383,237(-) T/C initiator_codon_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for SERPINA1 Gene

Variant ID Type Subtype PubMed ID
esv3447303 CNV insertion 20981092
nsv1120301 CNV tandem duplication 24896259
nsv1406 CNV insertion 18451855
nsv470662 CNV gain 18288195
nsv509545 CNV insertion 20534489
nsv512370 CNV loss 21212237
nsv513750 CNV insertion