Details of mutation JUP:G680fsX690

GeneMutationDNA changeProtein changeExonLocusTypeReported ClassificationGrantham ScoreSIFTPolyPhenDomainNotesLOVD ID
JUPG680fsX690c.2040_2041delGTp.Trp680GlyfsX111217q21Deletion; frameshiftPathogenic   C-terminusautosomal recessive; reported as c.2158_2159delGT JUP_00016

Clinical reports of this mutation in patients and controls

ArticleArticle detailsControlsPatient# Affected RelativesNotes
Lazaros et al. Heart Vessels 2009;24:63-5. Article details 0/0 TFC+; Naxos-disease: woolly hair and palmoplantar keratoderma autosomal recessive
Huang et al. Cell Motility and the Cytoskeleton 2008;65:964-78. Article details 0/0   A model using transfected HEK293 cells showed dramatically decreased cell-to-cell adhesion without affecting cell compliance
Antoniades et al. European Heart Journal 2006;27:2208-16. Article details 0/200 TFC+; Naxos-disease: woolly hair and palmoplantar keratoderma25autosomal recessive; a total of 26 mutation homozygotes were found in 12 families.
Kaplan et al. Heart Rhythm 2004;1:3-11. Article details 0/0 4, 3TFC+, with Naxos Disease Functional data: reduced connexin43 expression at intercellular junctions, smaller and fewer gap junctions interconnecting ventricular myocytes on electron microscopy. Failure of mutant plakoglobin to localize normally at intercellular junctions.
McKoy et al. Lancet 2000;355:2119-24. Article details 0/0 TFC+; Naxos-disease: woolly hair and palmoplantar keratoderma18autosomal recessive; all affected are from Naxos, not one family
Please login to comment on this mutation.

SNP reports

No SNP reports found.