Details of mutation JUP:S39_K40insS

GeneMutationDNA changeProtein changeExonLocusTypeReported ClassificationGrantham ScoreSIFTPolyPhenDomainNotesLOVD ID
JUPS39_K40insSc.118_119insGCAp.Ser39_Lys40insSer217q21InsertionPathogenic   N-terminus  JUP_00003

Clinical reports of this mutation in patients and controls

ArticleArticle detailsControlsPatient# Affected RelativesNotes
Asimaki et al. New England Journal of Medicine 2009;360:1075-84. Article details 0/0 TFC+  
Huang et al. Cell Motility and the Cytoskeleton 2008;65:964-78. Article details 0/0   A model using transfected HEK293 cells showed diminished cell stiffness without affecting cell-to-cell adhesion
Asimaki et al. American Journal of Human Genetics 2007;81:964-73. Article details 0/400 TFC+; no cutaneous abnormalities.2autosomal dominant
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SNP reports

No SNP reports found.