SERPINA1 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- SERPINA1 (HGNC:8941) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- serpin family A member 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- PI
- Alias symbols
- AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT
- %HI
- 88.1(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.63(Read more about gnomAD LOEUF score)
- Cytoband
- 14q32.13
- Genomic Coordinates
-
GRCh37/hg19: chr14:94843084-94856972 NCBI Ensembl UCSC GRCh38/hg38: chr14:94376747-94390635 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000295.5 ENST00000393087.9 (Read more about MANE Select)
- 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. [Short peptide from AAT]: Reversible chymotrypsin inhibitor. It also inhibits elastase, but not trypsin. Its major physiological function is the prot... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-30111
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
05/09/2017
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- alpha 1-antitrypsin deficiency Monarch
HI Evidence Comments:
Variants in SERPINA1 are associated with alpha-1 antitrypsin deficiency. Mostly sequence/gene level variants in HGMD/OMIM ranging from minor substitutions, deletions, or insertions within the a1AT coding exons II-V have been reported. In particular, PI*Z, the most common pathogenic allele, or null alleles (e.g., PI*SZ) result in functionally deficient AAT protein (see GeneReviews). Individuals with biallelic null variants produce no measurable serum AAT. Because there is no protein to accumulate in the liver, these individuals are not at increased risk of developing liver disease; however, they are at high risk of developing lung disease; see GeneReviews for additional information.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000014.8)
(NC_000014.9)