PCSK9 H553R - 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:

PCSK9 H553R

(PCSK9 His553Arg)


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

  • G @ chr1:55525313: 0.3% (35/10416) in EVS
  • G @ chr1:55297900: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 0.3% (35/10416)

Publications
 

Genomes
 

GS18505 - var-GS18505-1100-36-ASM
het G @ chr1:55297901

 

Other external references
 

    dbSNP
  • rs28362270
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.992 (probably damaging)
    Web search results (13 hits -- see all)
  • C H O R I
    We hypothesize that PCSK9 has multiple functions in terms of lowering cholesterol levels in plasma. ... of PCSK9 induce either hypercholesterolemia (E482G, F515L, and H553R) or ...
    www.chori.org/Centers/Obesity/yamamoto_research.html
  • A Spectrum of PCSK9 Alleles Contributes to Plasma Levels of ...
    The coding regions of PCSK9 were sequenced in the blacks and whites from the ... that PCSK9 activity is a major determinant of plasma levels of LDL-C ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • A Spectrum of PCSK9 Alleles Contributes to Plasma Levels of ...
    PCSK9 encodes a 692-aa glycoprotein that is a member of the subtilisin/kexin type 9 ... The H553R variation was not associated with LDL-C levels in this sample. ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1380285/?tool=pubmed
  • The Cellular Trafficking of the Secretory Proprotein ...
    PCSK9 or mutants of PCSK9 and the LDLR would provide. insight into the mechanism of PCSK9 ... considerable attention when the PCSK9 gene was linked. to autosomal ...
    biochem.wisc.edu/.../publications/nassoury_traffic_2007.pdf
  • PLoS ONE: Evidence for Positive Selection in the C-terminal ...
    PLoS ONE: an inclusive, peer-reviewed, open-access resource from the PUBLIC LIBRARY OF ... in the functional domains of PCSK9, an important regulator of cholesterol homeostasis. ...
    plosone.org/article/info:doi/10.1371/journal.pone.0001098
  • Type II- 95%
    ... CMTX1, moderate 11437164 HSD11B2 P80365 R186C 184 VAR_015637 PKC (0.550) AME 7593417 9661590 PKLR P30613 ... Polymorphism (dbSNP:rs41307274) PCSK9 Q8NBP7 R469W 472 VAR_025456 ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_95.txt
  • TTMed Cardiology - 論文 - PCSK9阻害:高コレステロール血症治療の新たな戦略
    TTMed Cardiology 論文は、世界の第一線でご活躍されている先生方のご執筆によるオリジナル論文を掲載しています。
    ttmed.com/Articles.aspx?ID_VD=MeIi/h1VtPo=&...
  • The self-inhibited structure of full-length PCSK9 at 1.9 Å ...
    importance, relatively little is known about the biology of PCSK9. ... PCSK9 exerts its role in cholesterol metabolism through post- translational down ...
    www.fli-leibniz.de/www_bioc/journal_club/hampton.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in