RAMP3 W56R - 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.

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Curation:
Currentness:

RAMP3 W56R

(RAMP3 Trp56Arg)


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

  • C @ chr7:45217015: 5.0% (537/10758) in EVS
  • C @ chr7:45183539: 9.4% (12/128) in GET-Evidence
  • Frequency shown in summary reports: 5.0% (537/10758)

Publications
 

Genomes
 

 

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het C @ chr7:45217015

 

 

GS06994 - var-GS06994-1100-36-ASM
het C @ chr7:45183540

 

GS18526 - var-GS18526-1100-36-ASM
het C @ chr7:45183540

 

GS18537 - var-GS18537-1100-36-ASM
het C @ chr7:45183540

 

GS18940 - var-GS18940-1100-36-ASM
het C @ chr7:45183540

 

GS19700 - var-GS19700-1100-36-ASM
het C @ chr7:45183540

 

GS19701 - var-GS19701-1100-36-ASM
het C @ chr7:45183540

 

GS19704 - var-GS19704-1100-36-ASM
het C @ chr7:45183540

 

Other external references
 

    dbSNP
  • rs2074654
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 1.0 (probably damaging)
    Web search results (9 hits -- see all)
  • BioPortfolio - OR5R1
    BioPortfolio - OR5R1 - olfactory receptor, family 5, subfamily R ... D121G 7.5 ENSG00000122679 RAMP3 Receptor activity-modifying protein 3 rs2074654 ...
    www.bioportfolio.com/search/OR5R1.html
  • Receptor activity-modifying protein 3 precursor - Homo ...
    Heterodimer of CALCRL and RAMP3 By similarity. Subcellular location ... RAMP3. MIM. 605155. gene. PharmGKB. PA34204. GenAtlas. Search... Phylogenomic databases ...
    www.uniprot.org/uniprot/O60896
  • Table 3
    1,4-alpha-glucan branching enzyme. rs2305246. R190G. 35. ENSG00000104901 ... RAMP3. Receptor activity-modifying protein 3. rs2074654. W56R. 5.8. ENSG00000005844. ITGAL ...
    www.biomedcentral.com/1471-2105/8/301/table/T3
  • BMC Bioinformatics
    Department of Biochemistry, University of Cambridge, 80 Tennis Court ... RAMP3. Receptor activity-modifying protein 3. rs2074654. W56R. 5.8. ENSG00000005844. ITGAL ...
    www.biomedcentral.com/content/pdf/1471-2105-8-301.pdf
  • Supplementary Table xls.1
    ... kÇkükékâkäkàkåkçkêkëkèkïkîkìkÄkÅkÉkækÆkôkökòkûkùkÿkÖkÜk¢k£k¥k ... 0;\-"ú"#,##0*"ú"#,##0;[Red]\-"ú"#,##0*"ú"#,##0.00;\-"ú"#,##0.00**#*"ú"#,##0.00; ...
    icr.ac.uk/research/research_sections/.../2843.xls
  • nsSNP-phase1-to-3-support.tab
    18 phase1and2 g173761 rs7236891 8535785 1 A/G no ENSG00000182579 Q5T931. ... 18 phase1and2 g173763 rs1965665 8774612 1 A/G no ENSG00000168502 KIAA0802. ...
    www-gene.cimr.cam.ac.uk/todd/public_data/...
  • Type II- 95%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed ... 15489334 RAMP3 O60896 W56R 60 VAR_024602 CK2 (0.575) Polymorphism (dbSNP:rs2074654) PADI4 ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_95.txt
  • Mooney Lab - MutDB
    Mooney Lab Home Publications Research Contact Us. Gene ID: RAMP3 ... MutDB MutPred In Silico Functional Profiling PhenoPred S-BLEST CRP Web Services ...
    www.mutdb.org/cgi-bin/mutdb.pl?id=RAMP3&geneid=10268

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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