RYR2 Q2958R - GET-Evidence

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

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Curation:
Currentness:

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RYR2 Q2958R

(RYR2 Gln2958Arg)


You are viewing an old version of this page that was saved on March 29, 2011 at 8:55pm by Genome Importing Robot.

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 @ chr1:237841390: 22.4% (2178/9718) in EVS
  • G @ chr1:235908012: 13.3% (17/128) in GET-Evidence
  • Frequency shown in summary reports: 22.4% (2178/9718)

Publications
 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het G @ chr1:237841390

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het G @ chr1:237841390

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het G @ chr1:237841390

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het G @ chr1:237841390

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het G @ chr1:237841390

 

Added in this revision:

GS07357 - var-GS07357-1100-36-ASM
hom G @ chr1:235908013

 

GS12004 - var-GS12004-1100-36-ASM
het G @ chr1:235908013

 

snp-5

 

snp-6

 

Other external references
 

    dbSNP
  • rs34967813
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the RYR2 gene
    Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 2
    Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autos
    Catecholaminergic Polymorphic Ventricular Tachycardia
    RYR2-Related Catecholaminergic Polymorphic Ventricular Tachycard
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RYR2
    Web search results (8 hits -- see all)
  • Mutations of the Cardiac Ryanodine Receptor (RyR2) Gene in ...
    Mutations of the Cardiac Ryanodine Receptor (RyR2) Gene in Familial Polymorphic Ventricular Tachycardia ... Q2958R is localized within the area of interaction with the RyR2 ...
    circ.ahajournals.org/cgi/content/full/0415058103
  • Mutations of the Cardiac Ryanodine Receptor (RyR2) Gene in ...
    The variant Q2958R allele was present in a homozygous state in both affected and ... Q2958R is localized within the area of interaction with the RyR2 ...
    circ.ahajournals.org/cgi/content/full/103/4/485
  • Identification of mutations in the cardiac ryanodine receptor ...
    substitutions in the RyR2 sequence (G1885E and Q2958R) were carried in cis with the ... (C) Family 122: DNA sequencing of RYR2 exon 15 in all family members ...
    hmg.oxfordjournals.org/cgi/reprint/10/3/189.pdf
  • Identification of mutations in the cardiac ryanodine receptor ...
    The detection of RyR2 mutations causing ARVD2, reported in this paper, opens the way to ... acid substitutions in the RyR2 sequence (G1885E and Q2958R) were carried in cis with ...
    hmg.oxfordjournals.org/cgi/content/full/10/3/189
  • GENETIC DEFECTS OF CALCIUM AND POTASSIUM SIGNALING IN ...
    1.3 Identification of RYR2 mutations in CPVT patients (I, III) ... Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ...
    ethesis.helsinki.fi/julkaisut/laa/.../laitinen2/geneticd.pdf
  • RYR2 MUTATIONS - Patent application - This document provides ...
    For example, methods for determining whether or not a mammal contains a genetic mutation in an RyR2 sequence are provided. ...
    www.faqs.org/patents/app/20080286875
  • 22
    Welcome from the Director of the Graduate School of Biomedical and ... Prof. Mark Worwood, Director Graduate School of Biomedical and Life Sciences ...
    www.cf.ac.uk/postgradday2006/PGdayBooklet.pdf
  • RYR1
    Q2958R. 0.74/0.26, Laitinen et al. 2001 ยท Polymorphisms where allele frequencies have not ... the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ...
    physiologie.uni-ulm.de/.../mh/ryr1mutationsliste.htm

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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