PKP2 S70I - 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:

PKP2 S70I

(PKP2 Ser70Ile)


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 @ chr12:33049457: 1.9% (194/10278) in EVS
  • A @ chr12:32940723: 2.8% (3/106) in GET-Evidence
  • Frequency shown in summary reports: 1.9% (194/10278)

Publications
 

Genomes
 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het A @ chr12:33049457

 

GS19649 - var-GS19649-1100-36-ASM
hom A @ chr12:32940724

 

NA12878

 

Other external references
 

    dbSNP
  • rs75909145
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the PKP2 gene
    Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autos
    Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 9
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PKP2
    Web search results (4 hits -- see all)
  • Type I- 99%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed ... P02766 S70I 70 VAR_007565 IKK (0.815) amyloidosis, FAC and FAB 1520336 CTNNB1 ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_99.txt
  • Type I- 97%
    Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... CK1 (0.632) Con1-, abolishes the glycosylation site at position 238 8554050 NME1 ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_97.txt
  • Missense Variants in <i>Plakophilin-2</i> in Arrhythmogenic ...
    Karger is a medical publisher, scientific publisher and biomedical publisher of print and online journals and books.
    content.karger.com/ProdukteDB/produkte.asp?...

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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