KRT16 L130P - 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:

KRT16 L130P

(KRT16 Leu130Pro)


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
    Web search results (2 hits -- see all)
  • Type III 98%
    Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT ... Polymorphism (dbSNP:rs3865205) 9920877 KRT16 P08779 R127C 130 VAR_009184 CK2 ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_98.txt
  • Type III 99%
    ... transport activity is impaired 11477083 KRT16 P08779 R127P 130 VAR_012856 CK2 (0. ... Polymorphism (dbSNP:rs3732401) RAB27A P51159 L130P 135 VAR_011334 CAMKL (0.672) ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_99.txt

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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