The UMD-MEN1 mutations database
Record ID: 840

Mutation description

Variation name (cDNA level)	Variation name (protein level)	Variation status	Variation class
c.1308G>A	p.Trp436X	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
Pem,NM,RP,HD,CH		Yes, non coding strand	No

Mutation impact

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

Patient and sample data

Sample ID	Patient status	Gender	Transmission	Age of onset	Age of Death	Geographic origin
03-TA22-O12I-	Relative	Male		27

Phenotypic group	Disease
Not available	Please contact curator

Reference

Reference ID	PubMed ID	Reference
23	9709985	Menin Mutations In MEN1 Patients Bernhard Mayr, Georg Brabant, and Alexander von zur MŸhlen The Journal of Clinical Endocrinology & Metabolism 1998 83:8, 3004-3005