CMA1 H66R - GET-Evidence

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

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Curation:
Currentness:

CMA1 H66R

(CMA1 His66Arg)


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 @ chr14:24976574: 1.5% (159/10758) in EVS
  • C @ chr14:24046413: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 1.5% (159/10758)

Publications
 

Genomes
 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het C @ chr14:24976574

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het C @ chr14:24976574

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het C @ chr14:24976574

 

Other external references
 

    dbSNP
  • rs5247
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.963 (probably damaging)
    Web search results (17 hits -- see all)
  • CMA1 Gene - GeneCards | CMA1 Protein | CMA1 Antibody
    EntrezGene summary for CMA1: This gene product is a chymotryptic serine proteinase that ... CMA1 Gene in genomic location: bands according to Ensembl, locations ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=CMA1
  • Table 4
    rs5247. CMA1. NP_001827. H66R -2.51 -1.49. Salt Bridge lost; key catalytic residue, very ... BMC Bioinformatics 2006 7:166 doi:10.1186/1471-2105-7-166 ...
    www.biomedcentral.com/1471-2105/7/166/table/T4
  • Online Supplement A Polymorphism in the Protease-like Domain ...
    Celera, 1401 Harbor Bay Parkway, Alameda, CA 94502. 2. Cardiovascular ... rs5247. CMA1. 0.0178. Chr22: 34867709 APOL3. 0.0148. Chr6: 25216902. CMAH. 0.0407. rs35497285 ...
    atvb.ahajournals.org/cgi/data/ATVBAHA.107.141291/DC1/1
  • Chymase precursor - Homo sapiens (Human)
    CMA1. Synonyms: CYH, CYM. Organism. Homo sapiens (Human) [Complete ... 1. H R: dbSNP rs5247. Ref.6. VAR_011771. Natural variant. 98. 1. R H: dbSNP rs13306252. ...
    www.uniprot.org/uniprot/P23946
  • BioMed Central | Full text | SNPs3D: Candidate gene and SNP ...
    The third SNP, H66R, is in chymase (CMA1), and changes a key ... of the transcription initiation site of CMA1 has been reported to be associated ...
    www.biomedcentral.com/1471-2105/7/166
  • DOI: 10.1161/ATVBAHA.107.141291 published online Jun 14, 2007 ...
    Arteriosclerosis, Thrombosis, and Vascular Biology is published by the American ... rs5247. CMA1. 0.0178. Chr22: 34867709 APOL3. 0.0148. Chr6: 25216902. CMAH. 0. ...
    atvb.ahajournals.org/cgi/reprint/ATVBAHA.107.141291v1.pdf
  • AceView: Gene:CMA1, a comprehensive annotation of human ...
    AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
    ncbi.nlm.nih.gov/IEB/Research/Acembly/...&a=clones&l=CMA1
  • Table 1 Text
    ... 1458 0.14 123 "by cluster,freq" 8p22 lipoprotein lipase 3 rs328 LPL 4023 8 ... 0.36 123 "by cluster,freq" 8p22 lipoprotein lipase 4 rs328 LPL 4023 8 19864004 ...
    icr.ac.uk/research/research_sections/.../2841.txt
  • 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/...
  • UniProt: P23946
    DT 01-MAR-1992, sequence version 1. DT 24-NOV-2009, entry version 105. DE ... GeneCards; GC14M024044; -. DR H-InvDB; HIX0037752; -. DR HGNC; HGNC:2097; CMA1. ...
    www.genome.jp/dbget-bin/www_bget?uniprot+P23946

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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