ALPK2 R1884C - GET-Evidence

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

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Curation:
Currentness:

ALPK2 R1884C

(ALPK2 Arg1884Cys)


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

  • A @ chr18:56191053: 3.9% (417/10758) in EVS
  • A @ chr18:54342032: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 3.9% (417/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het A @ chr18:56191053

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr18:56191053

 

 

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het A @ chr18:56191053

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het A @ chr18:56191053

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
hom A @ chr18:56191053

 

Other external references
 

    dbSNP
  • rs33969768
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.699 (possibly damaging)
    Web search results (3 hits -- see all)
  • Alpha-protein kinase 2 - Homo sapiens (Human)
    ALPK2. Synonyms: HAK. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ... R C: dbSNP rs33969768. VAR_057742. Natural variant. 1969. 1. E K: dbSNP rs17065127. ...
    www.uniprot.org/uniprot/Q86TB3
  • ALPK2 Gene - GeneCards | ALPK2 Protein | ALPK2 Antibody
    ALPK2 Gene in genomic location: bands according to Ensembl, locations ... RNAi Products for Gene knock-down (ALPK2) OriGene 29mer shRNA kit in GFP-retroviral ...
    genecards.org/cgi-bin/carddisp.pl?gene=ALPK2&...&snp=264
  • UniProt: Q86TB3
    DT 14-APR-2009, sequence version 3. DT 20-APR-2010, entry version 57. ... Heart alpha-protein kinase; GN Name=ALPK2; Synonyms=HAK; OS Homo sapiens (Human) ...
    www.genome.jp/dbget-bin/www_bget?uniprot:Q86TB3

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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