OR2AG1 R299W - 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:

OR2AG1 R299W

(OR2AG1 Arg299Trp)


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 @ chr11:6763738: 4.7% (6/128) in GET-Evidence
  • Frequency shown in summary reports: 4.7% (6/128)

Publications
 

Genomes
 

GS18501 - var-GS18501-1100-36-ASM
het T @ chr11:6763739

 

GS18502 - var-GS18502-1100-36-ASM
het T @ chr11:6763739

 

GS19017 - var-GS19017-1100-36-ASM
het T @ chr11:6763739

 

GS19025 - var-GS19025-1100-36-ASM
het T @ chr11:6763739

 

GS19129 - var-GS19129-1100-36-ASM
het T @ chr11:6763739

 

GS19239 - var-GS19239-1100-36-ASM
het T @ chr11:6763739

 

Other external references
 

    dbSNP
  • rs2659879
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.512 (possibly damaging)
    Web search results (4 hits -- see all)
  • GPM - protein model: ENSP00000307447
    OR2AG1-201. ENST00000307401. 998. ENSP00000307447. 316. Protein codingA protein coding ... Gene_Symbol=OR2AG1 Olfactory receptor 2AG1 [view all locations] ...
    gpmdb.thegpm.org/thegpm-cgi/protein.pl?npep=0&...
  • UniProt: O2AG1_HUMAN
    ... Full=Olfactory receptor 2AG3; GN Name=OR2AG1; Synonyms=OR2AG3; OS Homo sapiens (Human) ... VARIANT 299 299 R -> W (in dbSNP:rs2659879). FT /FTId=VAR_059986. SQ SEQUENCE 316 AA; ...
    www.genome.jp/dbget-bin/www_bget?uniprot:O2AG1_HUMAN

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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