HCN4 G480R - GET-Evidence

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

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Curation:
Currentness:

HCN4 G480R

(HCN4 Gly480Arg)


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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: 0.998 (probably damaging)
    Web search results (22 hits -- see all)
  • Point Mutation in the HCN4 Cardiac Ion Channel Pore Affecting ...
    The HCN4 G480R point mutation was introduced with the QuickChange ... Figure 5. Expression of HCN4 WT and HCN4 G480R homotetramers in Xenopus oocytes. ...
    circ.ahajournals.org/cgi/content/full/116/5/463
  • Circulation -- Nof et al. 116 (5): 463 Figure IG5185099
    Figure 5. Expression of HCN4 WT and HCN4 G480R homotetramers in Xenopus oocytes. ... or oocytes injected with RNAs of HCN4 WT, G480R, or WT+G480R heterotetramer. ...
    circ.ahajournals.org/cgi/content-nw/full/116/.../FIG5185099
  • Point mutation in the HCN4 cardiac ion channel pore affecting ...
    Direct sequencing of the exons encoding HCN4 revealed a missense mutation, G480R, in the ion channel pore domain in all affected family members. ...
    www.ncbi.nlm.nih.gov/pubmed/17646576
  • Medline ® Abstract for Reference of 'Anatomy and ...
    Point mutation in the HCN4 cardiac ion channel pore affecting ... Function analysis, including expression of HCN4 wild-type and G480R in Xenopus oocytes and human embryonic ...
    uptodate.com/patients/content/abstract.do?...&refNum=11
  • BioPortfolio - HCN4 - hyperpolarization activated cyclic ...
    HCN4 - hyperpolarization activated cyclic nucleotide-gated potassium channel 4 - Bioportfolio ... A missense mutation, G480R, in the ion channel pore domain caused ...
    www.bioportfolio.com/gene/10021-HCN4.html
  • The Bulletin
    and HCN4 but the activation kinetics of HCN2 are. faster than HCN4 and HCN3 but slower ... whole heart, whereas HCN4 can be specifically found. in regions that are spontaneously ...
    www.bscr.org/vol21n2.pdf
  • Genesis and Regulation of the Heart Automaticity -- Mangoni ...
    ... Nkx2–5 show ectopic expression of Tbx3 and Hcn4 throughout the heart tube. ... SAN formation through inhibition of HCN4 expression and other markers, Tbx3 ...
    physrev.physiology.org/cgi/content/full/88/3/919
  • Point Mutation in the HCN4 Cardiac Ion Channel Pore Affecting ...
    Point Mutation in the HCN4 Cardiac Ion Channel Pore Affecting ... Function analysis, including expression of HCN4 wild-type and G480R in Xenopus oocytes and human embryonic ...
    www.medcompare.com/litupdate.asp?ArticleID=13650
  • Point mutation in the HCN4 cardiac ion channel pore affecting ...
    BACKGROUND: The hyperpolarization-activated nucleotide-gated channel--HCN4 plays a major role in the diastolic depolarization of sinus atrial node cells.
    www.medscape.com/medline/abstract/17646576
  • Lahat, H (Hadas)
    Mutant HCN4 channels have been found to be associated with inherited sinus bradycardia. ... exons encoding HCN4 revealed a missense mutation, G480R, in the ion ...
    lib.bioinfo.pl/auid:58914

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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