CAPN9 A102V - 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:

CAPN9 A102V

(CAPN9 Ala102Val)


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 @ chr1:230895279: 0.1% (6/10758) in EVS
  • T @ chr1:228961901: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 0.1% (6/10758)

Publications
 

Genomes
 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het T @ chr1:230895279

 

GS18555 - var-GS18555-1100-36-ASM
het T @ chr1:228961902

 

GS18942 - var-GS18942-1100-36-ASM
het T @ chr1:228961902

 

Other external references
 

    dbSNP
  • rs12562749
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 1.0 (probably damaging)
    Web search results (12 hits -- see all)
  • Calpain-9 - Homo sapiens (Human)
    ... OS=Homo sapiens GN=CAPN9 PE=1 SV=1 MPYLYRAPGPQAHPVPKDARITHSSGQSFEQMRQECLQRGTLFEDADFPASNSSLFYSER ... CAPN9. Synonyms: NCL4. Organism. Homo sapiens (Human) [Complete proteome] ...
    www.uniprot.org/uniprot/O14815
  • Entry View
    Name=CAPN9; Synonyms=NCL4; Organism Source. Homo sapiens (Human). Organism Classification ... HGNC:1486; CAPN9. MIM. 606401; gene. PharmGKB. PA26066; -. ArrayExpress ...
    srs.dna.affrc.go.jp/srs8/srs?-id+1RgFAf1bA2EA0u8+...
  • CAPN9 Gene - GeneCards | CAN9 Protein | CAN9 Antibody
    summary for CAPN9: Calpains are a group of calcium-sensitive cysteine proteases that are ... CAPN9 Gene in genomic location: bands according to Ensembl, locations ...
    genecards.org/cgi-bin/carddisp.pl?gene=CAPN9&...&snp=375
  • Mooney Lab - MutDB
    CAPN9. Number of Transcript Variants. 1. Visualize Pathways. Using web services (slow) ... DBSNP:rs12562749. 101. A V. NCBI. In dbsnp. None. 0.11. SWISS:VAR_022188 ...
    mutdb.org/cgi-bin/mutdb.pl?id=CAPN9&geneid=10753
  • UniProt: O14815
    AC O14815; B1APS1; B1AQI0; Q9NS74; DT 16-JUN-2003, integrated into UniProtKB/Swiss-Prot. ... Full=Protein CG36; GN Name=CAPN9; Synonyms=NCL4; OS Homo sapiens ...
    www.genome.jp/dbget-bin/www_bget?uniprot:O14815

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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