INSR A2G - GET-Evidence

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

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Curation:
Currentness:

INSR A2G

(INSR Ala2Gly)


Short summary

The many PGP individuals homozygous for INSR-A2G, and the absence of heterozygotes, suggests an error in the reference assembly.

Variant evidence
Computational 1

PolyPhen-2 predicts INSR-A2G to be BENIGN with a score of 0.000 (sensitivity: 1.00; specificity: 0.00).

Functional -
Case/Control 5

Finding 29 PGP participants homozygous (and none heterozygous) for this variant suggests that the substitution is benign.

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

  • None available.

Publications
 

Genomes
 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

Other external references
 

    dbSNP
  • rs7508518
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the INSR gene
    Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
    Donohue Syndrome
    Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Som
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/INSR
    Web search results (14 hits -- see all)
  • AceView: Gene:INSR, a comprehensive annotation of human ...
    AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
    ncbi.nlm.nih.gov/IEB/Research/Acembly/...&a=clones&l=INSR
  • full S30 set
    NAME Control 1 Control 2 Control 3 E2 1 E2 2 E2 3 4OHT 1 4OHT 2 4OHT ... 1826 1 594 618 1 848 1 A2g tight junction protein zonula occludens (ZO-1); tight ...
    www.math.mtu.edu/~igor/Gene_Arrays/S30_full.txt
  • ID POSITION NAME CON 1 CON 2 CON 3 E2 1 E2 2 E2 3 4OHT 1 4OHT 2 4
    ID POSITION NAME CON 1 CON 2 CON 3 E2 1 E2 2 E2 3 4OHT 1 4OHT 2 4 OHT ... 2592 5334 3844 3034 8496 14042 9518 5380 8604 7256 11436 7112 9222 336 8642 4186 ...
    www.math.mtu.edu/~igor/Gene_Arrays/BC2_full.txt
  • Dr. Gale Buchanan
    U*U. U. U*U*U*U*U*U*UáF*** ºD¢èΦΣG¢e5²*°Z ε*AdobedÇ* ä*g* *ó ... 0bñ*ÑH"ù"ÿ*Å₧x>ª*σ@**A²G<¼è^`¼Gvó**+âæŃºƒF*5\~gçⁿC"SmvI,µπ±{qq° z ...
    www.floridafarmtofuel.com/ppt/Buchanan.ppt
  • Pictures and Results
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    okanagan.bc.ca/Assets/Departments+(Education)/...
  • Observations of Our Changing Planet ...
    *αí*ß>* *¿k*¬k*¢k*a**äàåçêëÇ**÷*å*ç*ê*******α*ß*Γ*π*Σ*σ*µ*τ*Φ*Θ*Ω*δ**φ*ε**h*i*j ... Himalayas.mov*Ω*X***P**~*|*8GISS_Surface_Temperature.mov*Ω*J***B ...
    eospso.gsfc.nasa.gov/docserv/ETheater-North Carolina.ppt
  • .eps
    ... 00FalseFalse180/10 700/10 35/10 45/1018.0-70.0 mm f/3.5-4.5111313sRGB IEC61966 ... `7)sa-]6bH`/7T\p[H6;D3091RlZ?njUnNod^^.A2G%Q57`Rn]RfRL*c"DcXop9k5Q^@'E.YurG(_P_ ...
    www.markal.com/artwork/app_80131_soapstone.eps
  • Diego Alejandro.ppt
    *αí*ß>* **`**`*`*(Y)Y*Y+Y,Y-Y.Y/Y0Y1Y2Y3Y4Y5Y6Y7Y8Y9Y:Y;Y<Y=Y>Y?Y ... 456789:CDEFGHIJSTUVWXYZcdefghijstuvwxyzâäàåçêëèÆôöòûùÿÖÜóúñѪº¿¬ßΓπΣσµτΦΘΩ ...
    ag.arizona.edu/azaqua/ista/ISTA7/PowerPoints/...
  • *αí*ß>* * *
    ¡ o}Ω÷_c6ƒOgFε Ωⁿ1o°ºQ½5δu¬>*fZú1₧O'Y1¢O|¡<q ... a2gÿIúü**ε£[Q*eus4²+*M.?m·,W_₧i|*Ω5₧tσI¢*<ßäΦw9núvQx^n±τfì'orc'_îdÑ*Åπº ...
    www.osiris.ru/special_may_2007.ppt
  • Full text of "Early birth, marriage and death records of ...
    American Libraries | Canadian Libraries | Universal Library | Open ... Gutenberg | Biodiversity Heritage Library | Children's Library | Additional Collections ...
    archive.org/stream/.../earlybirthmarria01bake_djvu.txt

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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