The UMD-MEN1 mutations database
Record ID: 1360

Mutation description

Variation name (cDNA level)	Variation name (protein level)	Variation status	Variation class
c.378G>A	p.Trp126X	Heterozygous	CAUSAL

wt codon	wt aa	mutant codon	mutant aa	mutational event	mutation type
TGG	Trp	TGA	Stop	G->A	Ts

Structure	Key Residue (HCD)	Pyrimidin doublet	CpG
Sm, NM		Yes, non coding strand	No

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-DE19-C01R-	Relative	Female		9

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.