The UMD-LMNA mutations database
Record ID: 793

Mutation description

Variation name (cDNA level)	Variation name (protein level)	Variation status	Variation class
c.673C>T	p.Arg225X	Heterozygous	Mutation

wt codon	wt aa	mutant codon	mutant aa	mutational event	mutation type
CGA	Arg	TGA	Stop	C->T	Ts

Structure	Key Residue (HCD)	Pyrimidin doublet	CpG
Linker 2		Yes, coding strand	Yes

Mutation impact

At the mRNA level	On restriction map
	New restriction site(s): none Lost restriction site(s): none

Patient and sample data

Sample ID	Patient ID	Family ID	Patient status	Gender	Transmission
00JP01BIII661	III-6	Fam B Jakobs et al.	Relative	Female	Familial

Phenotypic group	Age of onset	Age of death	Geographic origin
DCM-CD		Still alive	U.S.A.

Comments

Also published by brodt et al. J Card Fail. 2013 Apr;19(4):233-9. Study of the LmnaR225X mutant mice model showed that cardiac conduction defects induced through AV node fibrosis is due to upregulated ECM gene expression upon activation of cardiac apoptosis (Cai et al. Int J Cardiol. 2019 Oct 17).

Pedigree

Reference

Reference ID	PubMed ID	Reference
12	11561226	Jakobs PM, Hanson EL, Crispell KA, Toy W, Keegan H, Schilling K, Icenogle TB, Litt M, Hershberger RE. Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease. J Card Fail. 2001 Sep;7(3):249-56.