HCN4 S672R - GET-Evidence

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HCN4 S672R

(HCN4 Ser672Arg)

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Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • None available.



Other external references

  • 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
  • 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 ...
  • 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 ...
  • 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 ...
  • 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] ...
  • 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 ...
  • 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 ...
  • 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 ...

Other in silico analyses

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

Edit history

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