The UMD-MEN1 mutations database
Glu to Stop mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Glu31X	c.91G>T	2	31	Ju, NM, RP		Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1634 02-CH01-J21L-981 Male Heterozygous CAUSAL W1114 0 237 03-CH01-J21L-981 Female Heterozygous CAUSAL W1114 0
p.Glu356X	c.1066G>T	8	356	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Tv	G->T	5
UMD_id Sample ID Gender Mutation status Variation class Family ID References 790 03-LE16-Y15N-988 Female Heterozygous CAUSAL W1078 0 810 03-LE16-M09C-959 Male Heterozygous CAUSAL W1078 0 816 03-LE16-A12A-961 Male Heterozygous CAUSAL W1078 0 1549 02-LE16-R01Y-998 Male Heterozygous CAUSAL W1078 0 1548 02-LE16-A12A-994 Male Heterozygous CAUSAL W1078 0
p.Glu363X	c.1087G>T	8	363	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Tv	G->T	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1570 02-AB04-L01T-944 Male Heterozygous CAUSAL W2022 0 1571 02-SA18-P01U-972 Female Heterozygous CAUSAL W2022 0 1572 02-AB04-PA11-995 Female Heterozygous CAUSAL W2022 0
p.Glu392X	c.1174G>T	8	392	Ju,Pem,NM,RP,FA,HD		Small rearrangement	Tv	G->T	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 805 03-MA18-A20E-008 Female Heterozygous CAUSAL W2019 28 815 03-MA18-J05R-979 Male Heterozygous CAUSAL W2019 28