SERPINA1 E288V - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Currentness:

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SERPINA1 E288V

(SERPINA1 Glu288Val)


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Short summary

 

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

Impact

Insufficiently evaluated not reviewed

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

Inheritance pattern

unknown

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)

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • 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 ...
    mayomedicallaboratories.com/.../communique/mc2831-1006.pdf
  • 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 ...
    www.jnrbm.com/content/5/1/5/table/T3
  • 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 ...
    www.biomedcentral.com/content/pdf/1477-5751-5-5.pdf
  • 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 ...
    www.biomedcentral.com/content/download/xml/1477-5751-5-5.xml
  • 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 ...
    icr.ac.uk/research/research_sections/.../2842.txt
  • Molekulaargeneetilised uuringud sisekliinikus
    AAT puudulikkuse põhjuseks on SERPINA1 (anti-elastaasi, antitrüpsiini) geeni mutatsioonid; ... PI*S (p.E288V) – kliiniliselt oluline vaid olulise AAT languse ...
    elmy.ee/public/files/T.Kahre - 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 ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_95.txt
  • 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] ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2780033

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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