HCN4 S672R - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

HCN4 S672R

(HCN4 Ser672Arg)


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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
 

    PolyPhen-2
  • Score: 0.999 (probably damaging)
    Web search results (39 hits -- see all)
  • NEJM -- Familial Sinus Bradycardia Associated with a Mutation ...
    Original Article from The New England Journal of Medicine -- Familial Sinus Bradycardia Associated with a Mutation in the Cardiac Pacemaker Channel
    content.nejm.org/cgi/content/full/354/2/151
  • IUPHAR DATABASE | Cyclic Nucleotide-Regulated Channels | HCN4
    S672R. 144. Missense. Human. D553N. 146. Missense. Human. HCN4-573X. 145. Gene ... 1.8-fold elevation of HCN4 mRNA in transgenic mice overexpressing the ...
    iuphar-db.org/IC/...?objectId=66&familyId=14
  • Funny current - Wikipedia, the free encyclopedia
    Genetic alterations of HCN4 channels (the molecular correlate of sinoatrial ... in the CNBD of the HCN4 protein (S672R) is associated with inherited sinus ...
    en.wikipedia.org/wiki/Funny_current
  • Familial Sinus Bradycardia Associated with a Mutation in the ...
    a mutation in the gene coding for the pacemaker HCN4 ion channel. ... S672R mutant hHCN4 channels (open circles, eight cells) expressed in HEK293 ...
    content.nejm.org/cgi/reprint/354/2/151.pdf
  • Control of Cardiac Rate by FunnyŽ Channels in Health and Disease
    cyclic nucleotide-binding domain of human HCN4, the main hyperpolarization-activated cyclic ... ties of HCN4 channels. Heteromeric wild-type/S672R. channels had a ...
    users.unimi.it/difrancesco/pdf/2008 Barbuti et al (review...
  • Corrente funny - Wikipedia
    Ad esempio, una mutazione congenita di un residuo aminoacidico nel dominio CNBD of della proteina HCN4 (S672R) è associato a bradicardia sinusale congenita.[8] ...
    it.wikipedia.org/wiki/Corrente_funny
  • Cardiac Pacemaker (I
    of a large Italian family where a specific HCN4 mutation (S672R) in the cyclic-nucleotide-binding domain (at the C- terminus) leads to inherited ...
    users.otenet.gr/~asm/DiFrancesco.pdf
  • The Pacemaker Current: From Basics to the Clinics
    Bradycardia and the HCN4. gene cosegregated tightly (two-point LOD ... HCN4 gene codes for a protein with a sin- gle aminoacid substitution in the CNBD (S672R) ...
    users.unimi.it/difrancesco/pdf/2007 Barbuti et al. (revie...
  • The Bulletin
    stage, HCN4 in wild type embryos is specifically. expressed in the wall of the left and ... exchange in the HCN4 CNBD (S672R) that resulted. in a -8.4 mV shift of ...
    www.bscr.org/vol21n2.pdf
  • Funny channels: relevance to pacemaking and importance as a ...
    The mutation (S672R) behaves as an autosomic dominant mutation and causes the probability curve of heterozygous mutant/wild type HCN4 channels ...
    physoc.org/custom2/publications/proceedings/archive/...+8SA5

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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