The UMD-MEN1 mutations database
Tyr to Stop mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Tyr313X	c.939T>G	7	313	NF,NM,RP,FA,HD		Small rearrangement	Tv	T->G	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 758 03-ST09-M25R-958 Female Heterozygous CAUSAL W115 14 774 03-CH01-L01U-985 Female Heterozygous CAUSAL W115 14
p.Tyr319X	c.957C>A	7	319	NF,NM,RP,FA,HD		Small rearrangement	Tv	C->A	7
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1574 02-FO21-G09L-930 Male Heterozygous CAUSAL W2014 0 121 04-AR09-C05C-969 Female Heterozygous CAUSAL W1108 0 763 03-AU04-G05O-942 Male Heterozygous CAUSAL W2005 0 764 03-DE22-L09L-001 Female Heterozygous CAUSAL W2017 0 767 03-DE22-A13A-974 Female Heterozygous CAUSAL W2017 0 776 03-AU04-P09E-938 Male Heterozygous CAUSAL W2005 0 1573 02-FO21-A18N-966 Female Heterozygous CAUSAL W2014 0
p.Tyr321X	c.963C>A	7	321	NF,NM,RP,FA,HD		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 760 03-SO13-M09C-958 Female Heterozygous CAUSAL 0
p.Tyr323X	c.969C>A	7	323	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Tv	C->A	7
UMD_id Sample ID Gender Mutation status Variation class Family ID References 723 03-HA13-M01R-939 Female Heterozygous CAUSAL W145 17 727 03-VA18-L01U-964 Female Heterozygous CAUSAL W1017 17 761 03-LE09-M01R-992 Female Heterozygous CAUSAL 17 765 03-ME22-F18A-982 Female Heterozygous CAUSAL 17 1534 02-PE18-D15L-969 Female Heterozygous CAUSAL W2020 17 1535 02-PE18-J01C-948 Female Heterozygous CAUSAL W2020 17 1536 02-GE19-E22E-957 Female Heterozygous CAUSAL W2020 17
p.Tyr327X	c.981C>A	7	327	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Tv	C->A	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 123 04-PO16-L21C-972 Female Heterozygous CAUSAL W1016 0 124 04-PO16-S01V-940 Male Heterozygous CAUSAL W1016 0