CNGB3 T298P - GET-Evidence

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

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Curation:
Currentness:

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CNGB3 T298P

(CNGB3 Thr298Pro)


You are viewing an old version of this page that was saved on December 27, 2009 at 4:09pm by Genome Importing Robot.

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

  • G @ chr8:87666251: 64.3% (6911/10752) in EVS
  • G @ chr8:87735366: 60.2% (77/128) in GET-Evidence
  • Frequency shown in summary reports: 64.3% (6911/10752)

Publications
 

Genomes
 

NA12878

 

NA18517

 

NA18555

 

NA18956

 

NA19129

 

NA19240

 

snp-1

 

snp-18

 

snp-2

 

Added in this revision:

snp-3

 

Other external references
 

    GeneTests
  • GeneTests records for the CNGB3 gene
    Stargardt Disease, Autosomal Recessive
    Achromatopsia
    Achromatopsia 3
    CNGB3-Related Stargardt Disease 1
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CNGB3
    PolyPhen-2
  • Score: 0.007 (benign)
    Web search results (31 hits -- see all)
  • CNGB3
    ACHM3 region, the identification and cloning of the CNGB3 ... Segregation of CNGB3 mutations for available family members is indicated: +, wild-type ...
    hmg.oxfordjournals.org/cgi/reprint/9/14/2107.pdf
  • Mutations in the CNGB3 gene encoding the {beta}-subunit of ...
    Mutations in the CNGB3 gene encoding the ß-subunit of the cone ... substitution at amino acid position 298 (T298P) in comparison with the genomic BAC ...
    hmg.oxfordjournals.org/cgi/content/full/9/14/2107
  • Supplementary Table xls.1
    ... kÇkükékâkäkàkåkçkêkëkèkïkîkìkÄkÅkÉkækÆkôkökòkûkùkÿkÖkÜk¢k£k¥k₧kƒkákíkókúkñkÑkªkºk¿kk¬k½k ... 0_-;_-"ú"* "-"_-;_-@0_-;\-* #,##0_-;_-* "-"_-;8_-"ú"* #,##0.00_-;\-"ú" ...
    icr.ac.uk/research/research_sections/.../2843.xls
  • Type III 98%
    ... kinase family Removed kinase gruop Effect Reference(s) for variant Reference(s) for phosphorylation site ... 15064763 CNGB3 Q9NQW8 T298P 297 VAR_018110 PKC (0.935) CDK (0.962) ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_98.txt
  • Type III 97%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... Reference(s) for variant Reference(s) for phosphorylation site TPSD1 Q9BZJ3 P15R ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_97.txt

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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