CHIT1 G102S - GET-Evidence

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

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Curation:
Currentness:

CHIT1 G102S

(CHIT1 Gly102Ser)


Short summary

Associated with reduced enzyme activity, chitotriosidase deficiency.

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

Impact

Insufficiently evaluated pathogenic

(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 @ chr1:203194186: 28.1% (3023/10758) in EVS
  • T @ chr1:201460808: 31.0% (39/126) in GET-Evidence
  • Frequency shown in summary reports: 28.1% (3023/10758)

Publications
 

Lee P, Waalen J, Crain K, Smargon A, Beutler E. Human chitotriosidase polymorphisms G354R and A442V associated with reduced enzyme activity. Blood Cells Mol Dis. 2007 Nov-Dec;39(3):353-60. Epub 2007 Aug 10. PubMed PMID: 17693102; PubMed Central PMCID: PMC2696477.

 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
hom T @ chr1:203194186

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het T @ chr1:203194186

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom T @ chr1:203194186

 

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
hom T @ chr1:203194186

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het T @ chr1:203194186

 

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het T @ chr1:203194186

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het T @ chr1:203194186

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het T @ chr1:203194186

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het T @ chr1:203194186

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het T @ chr1:203194186

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het T @ chr1:203194186

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het T @ chr1:203194186

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het T @ chr1:203194186

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
hom T @ chr1:203194186

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het T @ chr1:203194186

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
hom T @ chr1:203194186

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom T @ chr1:203194186

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
hom T @ chr1:203194186

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het T @ chr1:203194186

 

GS07357 - var-GS07357-1100-36-ASM
het T @ chr1:201460809

 

GS10851 - var-GS10851-1100-36-ASM
het T @ chr1:201460809

 

GS12004 - var-GS12004-1100-36-ASM
het T @ chr1:201460809

 

GS18501 - var-GS18501-1100-36-ASM
het T @ chr1:201460809

 

GS18504 - var-GS18504-1100-36-ASM
het T @ chr1:201460809

 

GS18508 - var-GS18508-1100-36-ASM
hom T @ chr1:201460809

 

GS18517 - var-GS18517-1100-36-ASM
het T @ chr1:201460809

 

GS18940 - var-GS18940-1100-36-ASM
het T @ chr1:201460809

 

GS18947 - var-GS18947-1100-36-ASM
het T @ chr1:201460809

 

GS18956 - var-GS18956-1100-36-ASM
het T @ chr1:201460809

 

GS19020 - var-GS19020-1100-36-ASM
het T @ chr1:201460809

 

GS19025 - var-GS19025-1100-36-ASM
het T @ chr1:201460809

 

GS19026 - var-GS19026-1100-36-ASM
het T @ chr1:201460809

 

GS19239 - var-GS19239-1100-36-ASM
hom T @ chr1:201460809

 

GS19240 - var-GS19240-1100-36-ASM
het T @ chr1:201460809

 

GS19648 - var-GS19648-1100-36-ASM
het T @ chr1:201460809

 

GS19649 - var-GS19649-1100-36-ASM
het T @ chr1:201460809

 

GS19669 - var-GS19669-1100-36-ASM
het T @ chr1:201460809

 

GS19700 - var-GS19700-1100-36-ASM
het T @ chr1:201460809

 

GS19704 - var-GS19704-1100-36-ASM
het T @ chr1:201460809

 

GS19735 - var-GS19735-1100-36-ASM
het T @ chr1:201460809

 

GS19834 - var-GS19834-1100-36-ASM
het T @ chr1:201460809

 

NA12878

 

Other external references
 

    dbSNP
  • rs2297950
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.057 (benign)
    Web search results (62 hits -- see all)
  • BioPortfolio - CHIT1 - chitinase 1 (chitotriosidase)
    CHIT1 - chitinase 1 (chitotriosidase) - Bioportfolio ... Common G102S polymorphism in chitotriosidase differentially affects activity towards 4-methylumbelliferyl substrates. ...
    www.bioportfolio.com/gene/1118-CHIT1.html
  • Search for low penetrance alleles for colorectal cancer ...
    CHIT1. G102S. 0.29. 0.01. D. 1.17. 1.05. 1.30. 1.06. 0.42. 1.38. rs11700112. PAK7 ... G102S. Possibly damaging/intolerant. CHIT1. Chitinase 1. Carbohydrate metabolism. 600031 ...
    hmg.oxfordjournals.org/cgi/reprint/15/21/3263.pdf
  • Journal of Clinical Investigation -- Marked elevation of ...
    Common G102S polymorphism in chitotriosidase differentially affects activity towards 4-methylumbelliferyl ... Human CHIT1 gene distribution: new data from Mediterranean and ...
    www.jci.org/articles/view/117084
  • FEBS Journal RSS Page 5
    Common G102S polymorphism in chitotriosidase differentially affects ... of CHIT1 activity measurements with 4MU[ndash]chitotrioside with respect to CHIT1 protein concentrations ...
    medworm.com/rss/search.php?qu=FEBS+Journal&t=FEBS+...&page=5
  • Type 1 Gaucher disease: null and hypomorphic novel ...
    The G102S mutation was common in Type 1 GD patients and controls ( approximately ... of a known polymorphism, G102S, on the catalytic properties of CHIT1. ...
    lib.bioinfo.pl/pmid:17464953
  • Gaucher disease. >> citations
    CHIT1 activity can be conveniently measured using fluorogenic 4-methylumbelliferyl (4MU) ... of a known polymorphism, G102S, on the catalytic properties of CHIT1. ...
    lib.bioinfo.pl/pmid:7741022
  • BiomedExperts: Type 1 Gaucher disease: null and hypomorphic ...
    Sequencing their CHIT1 genes revealed three novel mutations: p.E74K (E74K), p.G102S (G102S), and a complex ... The G102S mutation was common in Type 1 GD patients and controls ...
    biomedexperts.com/Abstract.bme/17464953/...

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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