rs121912713
| Pi-Pittsburgh; anti-thrombin |
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;T) | 5 | Bleeding disorder likely |
| (T;T) | 0 | common in clinvar |
| Make rs121912713(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 14 |
| Position | 94378561 |
| Gene | SERPINA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121912713 |
| dbSNP (classic) | rs121912713 |
| ClinGen | rs121912713 |
| ebi | rs121912713 |
| HLI | rs121912713 |
| Exac | rs121912713 |
| Gnomad | rs121912713 |
| Varsome | rs121912713 |
| LitVar | rs121912713 |
| Map | rs121912713 |
| PheGenI | rs121912713 |
| Biobank | rs121912713 |
| 1000 genomes | rs121912713 |
| hgdp | rs121912713 |
| ensembl | rs121912713 |
| geneview | rs121912713 |
| scholar | rs121912713 |
| rs121912713 | |
| pharmgkb | rs121912713 |
| gwascentral | rs121912713 |
| openSNP | rs121912713 |
| 23andMe | rs121912713 |
| SNPshot | rs121912713 |
| SNPdbe | rs121912713 |
| MSV3d | rs121912713 |
| GWAS Ctlg | rs121912713 |
| Max Magnitude | 5 |
rs121912713, better known as Met358Arg or Pi-Pittsburgh, represents a mutation in the SERPINA1 gene on chromosome 14. The rs121912713(G) allele represents a dominant mutation occurring at the active site of the alpha-1 antitrypsin (AAT) protein, in which AAT becomes a potent inhibitor of thrombin and factor XI (rather than of elastase), resulting in a bleeding disorder. For more details, see OMIM 107400.0026.
| ClinVar | |
|---|---|
| Risk | rs121912713(G;G) |
| Alt | rs121912713(G;G) |
| Reference | Rs121912713(T;T) |
| Significance | Pathogenic |
| Disease | Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation Alpha-1-antitrypsin deficiency |
| Variation | info |
| Gene | SERPINA1 |
| CLNDBN | Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation Alpha-1-antitrypsin deficiency |
| Reversed | 1 |
| HGVS | NC_000014.8:g.94844898A>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019591.3, RCV000201860.1, |
[PMID 1569192
] Met 358 to Arg mutation of alpha 1-antitrypsin associated with protein C deficiency in a patient with mild bleeding tendency.
[PMID 3484756] Recombinant alpha 1-antitrypsin Pittsburgh (Met 358----Arg) is a potent inhibitor of plasma kallikrein and activated factor XII fragment.
[PMID 6604220] Mutation of antitrypsin to antithrombin. alpha 1-antitrypsin Pittsburgh (358 Met leads to Arg), a fatal bleeding disorder.
[PMID 8182727] The molecular basis of genetic dominance.
