SIM1 P352T - GET-Evidence

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

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Curation:
Currentness:

SIM1 P352T

(SIM1 Pro352Thr)


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

  • T @ chr6:100868779: 10.0% (1072/10758) in EVS
  • T @ chr6:100975499: 15.6% (20/128) in GET-Evidence
  • Frequency shown in summary reports: 10.0% (1072/10758)

Publications
 

Genomes
 

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het T @ chr6:100868779

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het T @ chr6:100868779

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het T @ chr6:100868779

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het T @ chr6:100868779

 

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het T @ chr6:100868779

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het T @ chr6:100868779

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het T @ chr6:100868779

 

GS07357 - var-GS07357-1100-36-ASM
het T @ chr6:100975500

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr6:100975500

 

GS18537 - var-GS18537-1100-36-ASM
het T @ chr6:100975500

 

GS18940 - var-GS18940-1100-36-ASM
hom T @ chr6:100975500

 

GS18942 - var-GS18942-1100-36-ASM
hom T @ chr6:100975500

 

GS18947 - var-GS18947-1100-36-ASM
het T @ chr6:100975500

 

GS18956 - var-GS18956-1100-36-ASM
hom T @ chr6:100975500

 

GS19649 - var-GS19649-1100-36-ASM
hom T @ chr6:100975500

 

GS19670 - var-GS19670-1100-36-ASM
hom T @ chr6:100975500

 

Other external references
 

    dbSNP
  • rs3734354
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.365 (possibly damaging)
    Web search results (30 hits -- see all)
  • Studies of the SIM1 gene in relation to human obesity and ...
    SIM1-deficient mice have a hypocellular PVN and are severely obese with increased food intake. ... The two common SNPs, P352T and A371V, which are in complete linkage ...
    www.ncbi.nlm.nih.gov/pubmed/16924270
  • International Journal of Obesity - Abstract of article ...
    SIM1-deficient mice have a hypocellular PVN and are severely obese with ... Male subjects carrying the P352T/A371V haplotype were found to have a slightly ...
    www.nature.com/ijo/journal/v31/n3/abs/0803443a.html
  • Obesity - Abstract of article: Analysis of the SIM1 ...
    Formerly known as Obesity Research, Obesity is the official journal of The Obesity ... SIM1 (single-minded 1) haploinsufficiency is responsible for obesity in both humans and ...
    nature.com/oby/journal/vaop/ncurrent/abs/oby2009468a.html
  • Analysis of the SIM1 Contribution to Polygenic Obesity in the ...
    SIM1 (single-minded 1) haploinsufficiency is responsible for obesity in both humans and ... further supported the association of P352T and ,004 -/inst T with ...
    tripdatabase.com/doc/995105-Analysis-of-the-SIM1-Contribu...
  • Bogardus, C (Clifton)
    SIM1 (single-minded 1) haploinsufficiency is responsible for obesity ... To assess the role of SIM1 in polygenic obesity, this gene was analyzed in the ...
    lib.bioinfo.pl/auid:3640
  • The INS VNTR locus does not associate with Smallness for ...
    SIM1 (single-minded 1) haploinsufficiency is responsible for obesity in both humans and ... (TDT) further supported the association of P352T and +2,004 -/inst T ...
    lib.bioinfo.pl/pmid:16595598
  • Medical Sequencing at the Extremes of Human Body Mass
    SIM1 is of particular interest because of its strong biological plausibility, ... SIM1: P352T188 (rs3734354) ccaaa[c/a]cagcc. CC = 277; CA = 96; AA = 8 ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1852707
  • Type III 95%
    ... (s) for variant Reference(s) for phosphorylation site TPSD1 Q9BZJ3 P15R 14 ... Polymorphism (dbSNP:rs3865205) 9920877 ST5 P78524 K316N 322 VAR_027101 STE20 (0. ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_95.txt

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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