KRT16 K354N - 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:

KRT16 K354N

(KRT16 Lys354Asn)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(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 @ chr17:39766801: 0.1% (10/10752) in EVS
  • Frequency shown in summary reports: 0.1% (10/10752)

Publications
 

Genomes
 

Other external references
 

    GeneTests
  • GeneTests records for the KRT16 gene
    Pachyonychia Congenita
    Pachyonychia Congenita Type 1
    Nonepidermolytic Palmoplantar Hyperkeratosis
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KRT16
    PolyPhen-2
  • Score: 0.995 (probably damaging)
    Web search results (4 hits -- see all)
  • Type II- 98%
    ... <body><pre>Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed kinase ... (dbSNP:rs2830585) 10464288 KRT16 P08779 K354N 352 VAR_017067 PKC (0. ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_98.txt
  • Type II- 95%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed ... P80365 R186C 184 VAR_015637 PKC (0.550) AME 7593417 9661590 PKLR P30613 D390N ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_95.txt
  • OMIM: 148067
    KRT16 is constitutively expressed in most stratified squamous epithelia, but it ... (K354N) mutation in the central 2B domain of the KRT16 polypeptide. ...
    www.genome.jp/dbget-bin/www_bget?omim+148067

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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