DRD3 G9S - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

DRD3 G9S

(DRD3 Gly9Ser)


Short summary

Dopamine agonist for the D3 receptor – increases receptor affinity for dopamine by 4-5 times. So a gain-of-function mutation that could have positive or negative effects depending on the person’s brain.

Variant evidence
Computational -
Functional 4

“dopamine-mediated cAMP response was increased, and the mitogen-associated protein kinase (MAPK) signal was prolonged, as compared with the Ser-9 variant”

See 16809426.

Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pharmacogenetic

(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

“dopamine-mediated cAMP response was increased, and the mitogen-associated protein kinase (MAPK) signal was prolonged, as compared with the Ser-9 variant”

Allele frequency

  • T @ chr3:113890815: 53.3% (5734/10752) in EVS
  • T @ chr3:115373504: 51.6% (66/128) in GET-Evidence
  • Frequency shown in summary reports: 53.3% (5734/10752)

Publications
 

301 Moved Permanently

Moved Permanently

The document has moved here.

PubMed PMID: 16809426

 

301 Moved Permanently

Moved Permanently

The document has moved here.

PubMed PMID: 18320559

 

301 Moved Permanently

Moved Permanently

The document has moved here.

PubMed PMID: 19396436

 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het T @ chr3:113890815

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
hom T @ chr3:113890815

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr3:113890815

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom T @ chr3:113890815

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr3:113890815

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het T @ chr3:113890815

 

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
hom T @ chr3:113890815

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
hom T @ chr3:113890815

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het T @ chr3:113890815

 

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
hom T @ chr3:113890815

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het T @ chr3:113890815

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
hom T @ chr3:113890815

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
hom T @ chr3:113890815

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het T @ chr3:113890815

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het T @ chr3:113890815

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
hom T @ chr3:113890815

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het T @ chr3:113890815

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom T @ chr3:113890815

 

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het T @ chr3:113890815

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
hom T @ chr3:113890815

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
hom T @ chr3:113890815

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
hom T @ chr3:113890815

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het T @ chr3:113890815

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het T @ chr3:113890815

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
hom T @ chr3:113890815

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
hom T @ chr3:113890815

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het T @ chr3:113890815

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het T @ chr3:113890815

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het T @ chr3:113890815

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
hom T @ chr3:113890815

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom T @ chr3:113890815

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom T @ chr3:113890815

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
hom T @ chr3:113890815

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het T @ chr3:113890815

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom T @ chr3:113890815

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
hom T @ chr3:113890815

 

GS06985 - var-GS06985-1100-36-ASM
hom T @ chr3:115373505

 

GS07357 - var-GS07357-1100-36-ASM
het T @ chr3:115373505

 

GS10851 - var-GS10851-1100-36-ASM
hom T @ chr3:115373505

 

GS12004 - var-GS12004-1100-36-ASM
hom T @ chr3:115373505

 

GS18508 - var-GS18508-1100-36-ASM
het T @ chr3:115373505

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr3:115373505

 

GS18537 - var-GS18537-1100-36-ASM
hom T @ chr3:115373505

 

GS18555 - var-GS18555-1100-36-ASM
het T @ chr3:115373505

 

GS18558 - var-GS18558-1100-36-ASM
hom T @ chr3:115373505

 

GS18940 - var-GS18940-1100-36-ASM
het T @ chr3:115373505

 

GS18942 - var-GS18942-1100-36-ASM
het T @ chr3:115373505

 

GS18947 - var-GS18947-1100-36-ASM
hom T @ chr3:115373505

 

GS18956 - var-GS18956-1100-36-ASM
het T @ chr3:115373505

 

GS19025 - var-GS19025-1100-36-ASM
het T @ chr3:115373505

 

GS19129 - var-GS19129-1100-36-ASM
het T @ chr3:115373505

 

GS19648 - var-GS19648-1100-36-ASM
hom T @ chr3:115373505

 

GS19669 - var-GS19669-1100-36-ASM
hom T @ chr3:115373505

 

GS19670 - var-GS19670-1100-36-ASM
hom T @ chr3:115373505

 

GS19735 - var-GS19735-1100-36-ASM
hom T @ chr3:115373505

 

GS19834 - var-GS19834-1100-36-ASM
het T @ chr3:115373505

 

GS20502 - var-GS20502-1100-36-ASM
hom T @ chr3:115373505

 

GS20509 - var-GS20509-1100-36-ASM
het T @ chr3:115373505

 

Other external references
 

    dbSNP
  • rs6280
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [Essential Tremor]
    Risk or phenotype-associated allele: C. Phenotype: A study comparing 276 patients with essential tremor and 184 normal controls confirmed the association of the Gly-9 variant in the DRD-3 gene with risk and age-at-onset of essential tremor. Study size: 276. Study population/ethnicity: French.
    www.ncbi.nlm.nih.gov/pubmed/16809426
  • [Schizophrenia]
    [olanzapine]
    A study on 88 olanzapine-treated patients with schizophrenia found that the Gly/gly genotype was significantly associated with greater positive symptom improvement.
    www.ncbi.nlm.nih.gov/pubmed/18320559
  • [Parkinson Disease]
    [pramipexole]
    This variant in the DRD3 gene was significantly associated with the therapeutic efficacy of pramipexole in Chinese patients with Parkinson's disease in a study of 30 patients.
    www.ncbi.nlm.nih.gov/pubmed/19396436

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in