KRT5 S528G - 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:

KRT5 S528G

(KRT5 Ser528Gly)


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

  • C @ chr12:52908917: 17.3% (1866/10756) in EVS
  • C @ chr12:51195183: 6.6% (5/76) in GET-Evidence
  • Frequency shown in summary reports: 17.3% (1866/10756)

Publications
 

Genomes
 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het C @ chr12:52908917

 

 

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
hom C @ chr12:52908917

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het C @ chr12:52908917

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het C @ chr12:52908917

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het C @ chr12:52908917

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het C @ chr12:52908917

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het C @ chr12:52908917

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
hom C @ chr12:52908917

 

GS18501 - var-GS18501-1100-36-ASM
het C @ chr12:51195184

 

GS19025 - var-GS19025-1100-36-ASM
het C @ chr12:51195184

 

GS19026 - var-GS19026-1100-36-ASM
hom C @ chr12:51195184

 

GS19700 - var-GS19700-1100-36-ASM
het C @ chr12:51195184

 

Other external references
 

    dbSNP
  • rs11549950
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the KRT5 gene
    Epidermolysis Bullosa Simplex
    Epidermolysis Bullosa Simplex with Mottled Pigmentation
    Epidermolysis Bullosa Simplex, Dowling-Meara Type
    Epidermolysis Bullosa Simplex, Koebner Type
    Epidermolysis Bullosa Simplex, Weber-Cockayne Type
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KRT5
    Web search results (7 hits -- see all)
  • Type I- 98%
    ... Reference(s) for variant Reference(s) for phosphorylation site TBX19 O60806 S128F 128 ... MAPK (0.886) a lung tumor KRT5 P13647 S528G 528 VAR_028767 gCK1 (0.795) Polymorphism ...
    www.nih.go.kr/phosphovariant/html/group_whole/TypeI-_98.txt
  • Type I- 95%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed ... 8759905 8449505 10338101 ZNF761 Q86XN6 S528G 528 VAR_035337 PKC (0.625) ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_95.txt
  • plakat-vyzva.pdf1
    ... <H\BGjP6d'WbQRe8cf%Qgs^E'O1N<`S(YpPrkd?Xc)bNsE4-bcp9WAWT4aZG fM ... SZ4O4DRXa-hm%g:.C>C#=$7'6 kRT5$=#`G#J71_nRB.IhfK[&_jNJK=,"-A+eXgJ*J! ...
    www.vize.cz/download/plakat-vyzva.pdf1

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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