SERPINA1 E288V - GET-Evidence

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(SERPINA1 Glu288Val)

You are viewing an old version of this page that was saved on January 13, 2010 at 11:25am by Abraham Rosenbaum.

Short summary

This variant represents the PiS variant in alpha-1-antitrypsin deficiency where a homozygous individual has 60% enzymatic activity.

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • A @ chr14:94847262: 3.0% (328/10758) in EVS
  • A @ chr14:93917014: 4.7% (6/128) in GET-Evidence
  • Frequency shown in summary reports: 3.0% (328/10758)


Added in this revision:

Fregonese L, Stolk J. Hereditary alpha-1-antitrypsin deficiency and its clinical consequences. Orphanet J Rare Dis. 2008 Jun 19;3:16. Review. PubMed PMID: 18565211; PubMed Central PMCID: PMC2441617.



hu43860C - CGI sample GS00253-DNA_A01_200_37
het A @ chr14:94847262


Other external references

  • rs17580
  • Score: 0.995 (probably damaging)
    Web search results (8 hits -- see all)
  • An Improved Approach to Diagnosis of α α 1-Antitrypsin Deficiency
    for glutamic acid at codon 288 (E288V). This change. results in intracellular A1AT ... gene=serpina1;jsessionid=2F91D1EF6AADE481D03 BCC3F3BA8B429 ...
  • Table 3
    AAT (SERPINA1) dbSNP rs# SNP. amino acid. Control. Lung Disease. Power to detect 2× increase ... E288V. 5/190 (0.03) 4/190 (0.02) 0.1. Exon 4. rs28929474. 1096G/A. E366K. 4 ...
  • Journal of Negative Results in BioMedicine
    individuals of the AAT S allele (E288V) are not at risk for. emphysema but compound ... (SERPINA1) dbSNP rs# SNP. amino acid. Control. Lung Disease. Power to ...
  • Genetic polymorphisms and susceptibility to lung disease
    LeeLPaulineplee@scripps.eduWestCarolcwest@scripps.eduCrainKarenkcrain@scripps. ... individuals of the AAT S allele (E288V) are not at risk for emphysema but ...
  • Table 3 Text
    member 1" 24 rs1303 SERPINA1 5265 14 93914596 NM_000295 NP_000286 G/T E400D ... rs1303 SERPINA1 5265 14 93914596 NM_000295 NP_000286 G/T E400D plus 16651029 ...
  • Molekulaargeneetilised uuringud sisekliinikus
    AAT puudulikkuse põhjuseks on SERPINA1 (anti-elastaasi, antitrüpsiini) geeni mutatsioonid; ... PI*S (p.E288V) – kliiniliselt oluline vaid olulise AAT languse ... - Geneetilised uuringud sise...
  • Type II- 95%
    Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT ... CK2 (0.555) Polymorphism (dbSNP:rs17655) 8483504 OR5I1 Q13606 F76S 75 VAR_024101 ...
  • Real time PCR detection of the PI*Z and PI*S mutations ...
    Mutations in the SERPINA1 gene can result in both early onset chronic ... glutamic acid to valine substitution at amino acid 288 (E288V; rs17580) [13, 14] ...

Other in silico analyses

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 5

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Gene search

"GENE" or "GENE A123C":

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