KRT16 R127P - 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 R127P

(KRT16 Arg127Pro)


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

  • None available.

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: 0.999 (probably damaging)
    Web search results (8 hits -- see all)
  • Mendelian Inheritance in Man Document Reader
    ... nucleotide 380 of the KRT16 gene, resulting in an arg127-to-pro (R127P) amino acid change, ... PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE KRT16, GLN122PRO In a family of ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+148067
  • Type II- 99%
    ... PKA (0.923) PKC (0.754) GRK (0.544) AKT (0.651) 9482578 KRT16 P08779 R127P 130 VAR_012856 AGC (0.945) PKA (0.877) AKT (0.638) RSK (0.968) PC1 ...
    www.nih.go.kr/phosphovariant/html/group_whole/TypeII-_99.txt
  • Type II- 98%
    ... Reference(s) for variant Reference(s) for phosphorylation site ENPEP Q07075 R213Q 216 ... 544) AKT (0.651) 9482578 KRT16 P08779 R127P 130 VAR_012856 AGC (0.945) ...
    www.nih.go.kr/phosphovariant/html/group_whole/TypeII-_98.txt
  • OMIM: 148067
    KRT16 is constitutively expressed in most stratified squamous ... (R127P) amino acid change, using a novel long-range PCR strategy that eliminated amplification of KRT16 ...
    www.genome.jp/dbget-bin/www_bget?omim+148067

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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