Search database

Details of mutation JUP:S39_K40insS

Gene	Mutation	DNA change	Protein change	Exon	Locus	Type	Reported Classification	Grantham Score	SIFT	PolyPhen	Domain	Notes	LOVD ID
JUP	S39_K40insS	c.118_119insGCA	p.Ser39_Lys40insSer	2	17q21	Insertion	Pathogenic				N-terminus		JUP_00003

Clinical reports of this mutation in patients and controls

Article	Article details	Controls	Patient	# Affected Relatives	Notes
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.	2	autosomal dominant

Please login to comment on this mutation.

SNP reports

No SNP reports found.

web stats