Details of mutation DSC2:A897fsX900

GeneMutationDNA changeProtein changeExonLocusTypeReported ClassificationGrantham ScoreSIFTPolyPhenDomainNotesLOVD ID
DSC2A897fsX900c.2686_2687dupGAp.Ala897LysfsX41618q12Insertion; frameshiftNo known pathogenicity   Cytoplasmic  DSC2_00031

Clinical reports of this mutation in patients and controls

ArticleArticle detailsControlsPatient# Affected RelativesNotes
Pugh et al. Genetics in Medicine 2014:Epub ahead of print. Article details 0/0 DCM N=2 1 patient also carries LDB3 c.*13G>T,R148R in CAV3,H296H in PKP2,S6482L D12542N in TTN. 1 patient also carries T335A in DSG2,c.407-14C>A in ABCC9,K413K in DTNA, I1899I inTTN.
Cox et al. Circulation 2011;123:2690-2700. Article details 0/0 TFC+, N=8 6/8 patients also carried a pathogenic PKP mutation
Quarta et al. Circulation 2011;123:2701-9. Article details 0/0 TFC+, N=3 Functional abnormalities of this variant shown - preliminary and unpublished data
Christensen et al. Journal of Medical Genetics 2010;47:736-44. Article details 22/1300 TFC+ Found in 2 patients (p=1.0)
De Bortoli et al. European Journal of Human Genetics 2010;18:776-82. Article details 6/400 4 out of 5 carried one or two mutations in different ARVC/D genes See Rampazzo et al; may be considered a rare variant, though possibly affecting phenotypic expression of concomitant ARVC/D mutations.
Elliott et al. Circulation Cardiovascular Genetics 2010;3:314-22. Article details 3/200 DCM  
Fressart et al. Europace 2010;12:861-8. Article details 5/600 TFC+; n=4 Classified as polymorphism
Gehmlich et al. Cardiovascular Research 2010;90:77-87. Article details 0/0 None Normal proteolytic processing and localization. Reduced PG binding
Klauke et al. Human Molecular Genetics 2010;19:4595-607. Article details 12/790 TFC-2Classified as polymorphism
den Haan et al. Circulation Cardiovascular Genetics 2009;2:428-35. Article details 0/0   Pathogenicity excluded due to presence in controls (no. not specified) or lack of conservation
Rampazzo et al. European Heart Journal 2008;29:Suppl; 737. Article details 0/0 TFC+ Reported as "Polymorphism"
Tsatsopoulou et al. European Heart Journal 2007;28:Suppl; 382. Article details 0/0   See Syrris et al.
Syrris et al. American Journal of Human Genetics 2006;79:978-84. Article details 0/400 TFC+4Reported as c.2687_2688insGA; E896fsX900
UNPUBLISHED. Contact curators for more information . Article details 3/178    
The forum contains comments on this mutation.
Please login to comment on this mutation.

SNP reports

No SNP reports found.