HCN4 D553N - GET-Evidence

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

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Curation:
Currentness:

HCN4 D553N

(HCN4 Asp553Asn)


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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: 0.03 (benign)
    Web search results (160 hits -- see all)
  • Functional characterization of a trafficking-defective HCN4 ...
    Functional characterization of a trafficking-defective HCN4 mutation, D553N, associated with cardiac arrhythmia. Ueda K, Nakamura K, Hayashi T, ...
    www.ncbi.nlm.nih.gov/pubmed/15123648
  • Functional characterization of a trafficking-defective HCN4 ...
    Hyperpolarization-activated cyclic nucleotide-gated channel 4 gene HCN4 is a pacemaker channel that plays a key role in automaticity of sinus node in the heart, and ...
    www.medscape.com/medline/abstract/15123648
  • EP effects
    HCN4-D553N was found in a 43 year-old woman with an history of recurrent syncope. ... Overall, these data support the role of HCN4 channels in sinus node dysfunction. ...
    www.fsm.it/cardmoc/EP_HCN4_D553N.htm
  • HCN4 - Wikipedia, the free encyclopedia
    "Entrez Gene: HCN4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4" ... a trafficking-defective HCN4 mutation, D553N, associated with cardiac arrhythmia. ...
    en.wikipedia.org/wiki/HCN4
  • HCN4基因重组腺病毒载体的构建和鉴定_第2页_中国论文下载中心_医学论文_医药学论文
    2.5重组腺病毒AdHCN4中HCN4基因的PCR鉴定提取AdHCN4病毒基因组DNA, 以HCN4基因的引物进行PCR鉴定,结果AdHCN4可见353 bp的 ... of a traffickingdefective HCN4 mutation, D553N, associated with cardiac ...
    www.studa.net/yixue/070827/15153537-2.html
  • Skal patienter med kronisk nyresvigt behandles med folinsyre, B
    ficking-defective HCN4 mutation, D553N, associated with cardiac arrhyth ... HCN4 is required for the generation of pacemaker action potentials in the ...
    www.ugeskriftet.dk/LF/UFL/2008/11/pdf/VP05070057.pdf
  • Bradycardia-dependent triggered activity: relevance to drug ...
    Alert me when this article is cited. Alert me if a correction is ... a Trafficking-defective HCN4 Mutation, D553N, Associated with Cardiac Arrhythmia ...
    circ.ahajournals.org/cgi/content/abstract/68/4/846
  • Researcher database system
    Gene conversion-like events cause steroid 21-hydroxylase deficiency in congenital adrenal ... a trafficking-defective HCN4 mutation, D553N, associated with cardiac ...
    souran.tmd.ac.jp/database/search/index/search.php?id=649&...
  • Researcher database system
    Identification, Characterization and functional analysis of heart ... characterization of a trafficking-defective HCN4 mutation, D553N, associated with cardiac arrhythmia (共著, ...
    souran.tmd.ac.jp/database/search/index/search.php?...&pg=1
  • Manifestations and causes of the sick sinus syndrome
    Ueda, K, Nakamura, K, Hayashi, T, et al. Functional characterization of a trafficking-defective HCN4 mutation, D553N, associated with cardiac arrhythmia. ...
    uptodate.com/patients/content/topic.do?...

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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