The UMD-MEN1 mutations database
Record ID: 978

Mutation description

Variation name (cDNA level)	Variation name (protein level)	Variation status	Variation class
c.1546delC	p.Arg516GlyfsX43	Heterozygous	CAUSAL

wt codon	wt aa	mutant codon	mutant aa	mutational event	mutation type
CGG	Arg	del1a	Fs.	Stop at 558	Fr.

Structure	Key Residue (HCD)	Pyrimidin doublet	CpG
Sm3,CH

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 status	Gender	Transmission	Age of onset	Age of Death	Geographic origin
03-FR05-M09C-	Relative	Female		18

Phenotypic group	Disease
	Please contact curator

Reference

Reference ID	PubMed ID	Reference
31	10647896	MEN I gene mutations in sporadic adrenal adenomas. Schulte KM1, Heinze M, Mengel M, Simon D, Scheuring S, Khrer K, Rher HD. Hum Genet. 1999 Dec;105(6):603-10.