IRS2 G1057D - GET-Evidence

Curation:
Currentness:

IRS2 G1057D

(IRS2 Gly1057Asp)


Short summary

a.k.a Gly1057Asp, insulin receptor substrate-2 IRS2. The rs1805097(G) allele is associated with the Gly, and the (A) allele with Asp.
A longevity study concluded that rs1805097(A;A) individuals were about twice as likely to live over 85 y/o (odds ratio 2.03, CI:1.39-2.99, p = .0003).

Variant evidence
Computational -
Functional -
Case/Control 2

See Barbieri M et al. 2010 (19887537).

Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Low clinical importance, Uncertain protective

(The "low clinical importance, uncertain" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • T @ chr13:110435231: 23.3% (2288/9836) in EVS
  • T @ chr13:109233231: 23.2% (13/56) in GET-Evidence
  • Frequency shown in summary reports: 23.3% (2288/9836)

Publications
 

Barbieri M, Rizzo MR, Papa M, Boccardi V, Esposito A, White MF, Paolisso G. The IRS2 Gly1057Asp variant is associated with human longevity. J Gerontol A Biol Sci Med Sci. 2010 Mar;65(3):282-6. doi: 10.1093/gerona/glp154. Epub 2009 Nov 3. PubMed PMID: 19887537.

 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het T @ chr13:110435231

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het T @ chr13:110435231

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
hom T @ chr13:110435231

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het T @ chr13:110435231

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het T @ chr13:110435231

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het T @ chr13:110435231

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
hom T @ chr13:110435231

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het T @ chr13:110435231

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het T @ chr13:110435231

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het T @ chr13:110435231

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het T @ chr13:110435231

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
hom T @ chr13:110435231

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het T @ chr13:110435231

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het T @ chr13:110435231

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het T @ chr13:110435231

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het T @ chr13:110435231

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom T @ chr13:110435231

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het T @ chr13:110435231

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het T @ chr13:110435231

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het T @ chr13:110435231

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het T @ chr13:110435231

 

GS12004 - var-GS12004-1100-36-ASM
het T @ chr13:109233232

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr13:109233232

 

GS18555 - var-GS18555-1100-36-ASM
het T @ chr13:109233232

 

GS18942 - var-GS18942-1100-36-ASM
het T @ chr13:109233232

 

GS18947 - var-GS18947-1100-36-ASM
hom T @ chr13:109233232

 

Other external references
 

    dbSNP
  • rs1805097
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.024 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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