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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
  • 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
  • Alpha-1-Antitrypsin Null 3
  • Alpha-1 Antitrypsin 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 Complement and coagulation cascades 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 SERPINA3.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for SERPINA1 Gene

Genomics for SERPINA1 Gene

GeneHancer (GH) Regulatory Elements for SERPINA1 Gene

Promoters and enhancers for SERPINA1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J094384 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 669.9 -0.9 -949 15.2 PKNOX1 FOXA2 MLX ZFP64 ARID4B DMAP1 YY1 PAF1 SP5 ZHX2 SERPINA1 IFI27L2 SERPINA11 SERPINA9 ENSG00000256357 DICER1 SERPINA2
GH14J094597 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 28.9 -209.5 -209511 6.1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 FOS SP5 SERPINA10 SERPINA3 SERPINA1 SERPINA5 SCARNA13 SNHG10 DICER1 SERPINA6 SERPINA11 SERPINA4
GH14J094593 Enhancer 1.2 FANTOM5 ENCODE 22.1 -203.4 -203374 1.1 FOXA2 MLX ZFP64 ARID4B DMAP1 ZNF48 ETS1 YY1 TCF12 SLC30A9 SERPINA5 SERPINA1 SERPINA6 SERPINA11 SERPINA10 SERPINA3 SERPINA4 SNHG10 ENSG00000273259
GH14J093953 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 13.5 +430.7 430693 13.2 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 IRF4 BTBD7 SERPINA1 CCDC197 DDX24 IFI27L2 IFI27 RPSAP4 FAM181A-AS1 ASB2 MIR4506
GH14J094322 Promoter/Enhancer 1.4 EPDnew ENCODE 6.3 +67.7 67747 1.6 FOXA2 ARID4B DMAP1 ZNF48 ETS1 YY1 GLIS2 RXRA SP5 NFYC SERPINA6 ENSG00000256357 SERPINA1 SERPINA10
- 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:
  • TBP
  • AP-1

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 StructureGene Density

RefSeq DNA sequence for SERPINA1 Gene

Proteins for SERPINA1 Gene

  • 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

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.
  • Glycosylation at isoforms=2, 3271, posLast=107107, and posLast=7070
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • A1AT_HUMAN (20)

Antibody Products

  • R&D Systems Antibodies for SERPINA1 (Serpin A1/alpha 1-Antitrypsin)
  • R&D Systems Antibodies for SERPINA1 (Serpin A1a)
  • R&D Systems Antibodies for SERPINA1 (Serpin A1c/alpha 1-Antitrypsin)

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:

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

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 IDA,NAS 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

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)

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 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

(43) Drugs for SERPINA1 Gene - From: DrugBank, ClinicalTrials, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 202
Serine Approved Nutra Full agonist, Agonist Weak endogenous glycine receptor agonist 1104
Pentetic acid Approved Pharma Carrier, substrate 114
Zinc Approved, Investigational Pharma Target 2430
Protein C Approved Pharma 126

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SERPINA1: view

Transcripts for SERPINA1 Gene

mRNA/cDNA for SERPINA1 Gene

Unigene Clusters for SERPINA1 Gene

Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1:
Representative Sequences:

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

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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 34 33
  • 99.28 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SERPINA1 34 33
  • 80.08 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SERPINA1 34 33
  • 78.23 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Serpina1 33
  • 75.51 (n)
mouse
(Mus musculus)
Mammalia Serpina1c 34 33
  • 74.03 (n)
OneToMany
Serpina1b 34
  • 65 (a)
OneToMany
Serpina1a 34
  • 65 (a)
OneToMany
Serpina1d 34
  • 64 (a)
OneToMany
Serpina1e 16 34
  • 63 (a)
Serpina1f 34
  • 35 (a)
OneToMany
Gm46 34
  • 31 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia SERPINA1 34
  • 51 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SERPINA1 34
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves SERPINA5 33
  • 56.57 (n)
SERPINA4 34
  • 43 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SERPINA1 34
  • 45 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia serpina1 33
  • 58.12 (n)
Str.4915 33
African clawed frog
(Xenopus laevis)
Amphibia LOC397792 33
zebrafish
(Danio rerio)
Actinopterygii serpina1l 34 33
  • 53.75 (n)
ManyToMany
serpina1 34
  • 37 (a)
ManyToMany
zgc:174260 34
  • 36 (a)
ManyToMany
zgc:174259 34
  • 35 (a)
ManyToMany
serpina7 34
  • 35 (a)
ManyToMany
si:ch211-186e20.7 34
  • 34 (a)
ManyToMany
si:ch211-186e20.2 34
  • 34 (a)
ManyToMany
CR559930.2 34
  • 33 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea srp-1 35
  • 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

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

Variants for SERPINA1 Gene

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
rs1037049864 uncertain-significance, Alpha-1-antitrypsin deficiency 94,388,698(-) G/A 5_prime_UTR_variant, intron_variant
rs1049800 benign, conflicting-interpretations-of-pathogenicity, 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

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 21212237
nsv832863 CNV gain 17160897
nsv832864 CNV loss 17160897

Variation tolerance for SERPINA1 Gene

Residual Variation Intolerance Score: 89% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.50; 55.36% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SERPINA1 Gene

Human Gene Mutation Database (HGMD)
SERPINA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SERPINA1

Disorders for SERPINA1 Gene

MalaCards: The human disease database

(87) MalaCards diseases for SERPINA1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
alpha-1-antitrypsin deficiency
  • a1atd