MICA R29P - GET-Evidence

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

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Curation:
Currentness:

MICA R29P

(MICA Arg29Pro)


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 @ chr6:31378335: 4.3% (138/3182) in EVS
  • C @ chr6:31486313: 6.5% (8/124) in GET-Evidence
  • Frequency shown in summary reports: 4.3% (138/3182)

Publications
 

Genomes
 

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het C @ chr6:31378335

 

 

 

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het C @ chr6:31378335

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het C @ chr6:31378335

 

 

GS18940 - var-GS18940-1100-36-ASM
het C @ chr6:31486314

 

GS18956 - var-GS18956-1100-36-ASM
het C @ chr6:31486314

 

Other external references
 

    dbSNP
  • rs9380254
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (9 hits -- see all)
  • MHC class I polypeptide-related sequence A precursor - Homo ...
    ... P in allele MICA*010, allele MICA*025 and allele MICA*054; abolishes cell surface expression, probably by interfering with protein folding. dbSNP rs9380254. ...
    www.uniprot.org/uniprot/Q29983
  • Table 4
    rs9380254. 6p21.33. MICA. rs1131896. 780. 1.00. 5744.1. 0.67. 0.87. 0.32 ... Illumina array that was used to compare the association as described in the caption of ...
    www.biomedcentral.com/1471-2156/9/6/table/T4
  • Supplementary Table 5: List of top-ranking SNPs and ...
    rs9380254. MICA. CEU. REHH 1 SNP 31491573. 31491573. 3.40. rs2596530. MICA, ... REHH 1 SNP 31509806. 31509806. 3.20. rs2596466. MICA, HCP5. CEU. REHH. Haplotype ...
    inflammgen.org/inflammgen/files/.../Supplementary Table5.pdf
  • Online Supplement
    rs1051791 MICA. 14. 15. SNP. Gene symbol. SNP. Gene symbol. rs1051794 MICA. Chr5:7931179. MTRR ... Chr6:31486337 MICA. rs2303080. MTRR. rs9380254 MICA. rs2075514 MYH11 ...
    atvb.ahajournals.org/cgi/data/.../DC1/1
  • BMC Genetics
    A hierarchical and modular approach to the discovery of robust. associations in genome ... rs9380254. 6p21.33. MICA. rs1131896. 780. 1.00. 5744.1. 0.67. 0.87. 0.32. rs1131896. 780. 1.00. 0.8 ...
    www.biomedcentral.com/content/pdf/1471-2156-9-6.pdf
  • DOI: 10.1161/01.ATV.0000247248.76409.8b 28, 2006; 2006;26 ...
    rs1131897. MICA. Chr2:169973009 LRP2. rs1131896. MICA. Chr2:169855164 LRP2. rs1051791 MICA. 14 ... MICA. rs2287780. MTRR. Chr6:31486337 MICA. rs2303080. MTRR. rs9380254 MICA ...
    atvb.ahajournals.org/cgi/reprint/26/12/2763.pdf
  • RCSB PDB : Biology and Chemistry Report for 1HYR - CRYSTAL ...
    1HYR: Complex structure of the activating immunoreceptor NKG2D and its MHC class I-like ligand MICA.
    pdb.org/pdb/explore/biologyAndChemistry.do?structureId=1HYR

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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