C3 P314L - GET-Evidence

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

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Curation:
Currentness:

C3 P314L

(C3 Pro314Leu)


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 @ chr19:6713262: 14.6% (1566/10758) in EVS
  • A @ chr19:6664261: 7.9% (10/126) in GET-Evidence
  • Frequency shown in summary reports: 14.6% (1566/10758)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr19:6713262

 

 

 

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het A @ chr19:6713262

 

 

 

 

 

 

 

 

 

GS10851 - var-GS10851-1100-36-ASM
het A @ chr19:6664262

 

GS19669 - var-GS19669-1100-36-ASM
het A @ chr19:6664262

 

Other external references
 

    dbSNP
  • rs1047286
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the C3 gene
    Age-related macular degeneration
    Age-Related Macular Degeneration 9
    C3 Deficiency, Autosomal Recessive
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/C3
    PolyPhen-2
  • Score: 0.159 (benign)
    Web search results (22 hits -- see all)
  • BiomedExperts: Complement component C3 and risk of age ...
    Complement component C3 and risk of age-related macular degeneration. ... METHODS: The variants R102G and P314L of the C3 gene, CFH Y402H and LOC387715 A69S, were ...
    biomedexperts.com/Abstract.bme/19168221/...
  • Complement component C3 and risk of age-related macular ...
    Complement component C3 and risk of age-related macular degeneration. ... METHODS: The variants R102G and P314L of the C3 gene, CFH Y402H and LOC387715 A69S, were ...
    www.ncbi.nlm.nih.gov/pubmed/19168221?dopt=Citation
  • Complement Component 3 (C3) Haplotypes and Risk of Advanced ...
    Here we describe a study of the effect of haplotypes across C3 on AMD risk. ... end of C3 showed the highest association (rs1047286 or P314L, P=9.2E ...
    www.iovs.org/cgi/content/short/iovs.08-3231v1
  • C3 - complement component 3
    C3-symmetric peptide scaffolds are functional mimetics of trimeric CD40L. ... METHODS: The variants R102G and P314L of the C3 gene, CFH Y402H and LOC387715 ...
    www.ihop-net.org/UniPub/iHOP/gs/86821.html
  • Complement Component 3 (C3) Haplotypes and Risk of Advanced ...
    Nine SNPs tagging haplotypes across C3 were genotyped on 738 subjects at the Mayo Clinic. ... of C3 showed the highest association (rs1047286 or P314L, P = 9.2E ...
    www.iovs.org/cgi/content/abstract/50/7/3386
  • Review of Ophthalmology Online
    Association Between C3 Gene Variant and AMD. Influence of Five Genes ... R102G and P314L of the complement component 3 (C3) gene, complement factor ...
    www.revophth.com/archive/newsletter/rp_020209.htm
  • Molecular Vision: Common variation in the SERPING1 gene is ...
    ... complement components CFB/C2 (CFB, L9H; C2, rs547154), and C3 (R102G and P314L) ... C3 R102G polymorphism increases risk of age-related macular degeneration. ...
    www.molvis.org/molvis/v15/a19
  • Mediators of ocular angiogenesis
    Department of Ophthalmology, John Moran Eye Center, University of Utah, 65 Mario ... Angiogenesis is the formation of new blood vessels from pre-existing ...
    www.ias.ac.in/jgenet/Vol88No4/495.pdf
  • cpsbjan92.do
    ... cpsbjan92, replace set mem 50m *by Jean Roth Wed Apr 18 10:17:06 EDT 2001 ... you are using a PC, you may need to change the direction of the slashes, as in C: ...
    www.nber.org/data/progs/cps-basic/cpsbjan92.do

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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