The UMD-MEN1 mutations database
Ser to Stop mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Ser226X	c.677C>G	4	226	Ju,Sm,NM,NMH,FA,HD		Small rearrangement	Tv	C->G	6
UMD_id Sample ID Gender Mutation status Variation class Family ID References 585 03-RO21-R05J-937 Female Heterozygous CAUSAL W158 14 1439 01-PO18-S20E-974 Female Heterozygous CAUSAL W158 14 1440 01-PO18-P01T-950 Male Heterozygous CAUSAL W158 14 1441 01-PO18-Y15L-930 Female Heterozygous CAUSAL W158 14 1442 01-PO18-B05A-947 Female Heterozygous CAUSAL W158 14 1443 01-PO18-M01R-972 Female Heterozygous CAUSAL W158 14
p.Ser253X	c.758C>A	4	253	Sm,NM,NMH,FA,HD		Small rearrangement	Tv	C->A	17
UMD_id Sample ID Gender Mutation status Variation class Family ID References 559 03-FA09-J21L-984 Male Heterozygous CAUSAL W92 9 564 03-FI12-V05R-965 Female Heterozygous CAUSAL W1003 14 576 03-FA09-I19A-966 Female Heterozygous CAUSAL W92 3 577 03-DE12-T08I-992 Male Heterozygous CAUSAL W92 3 581 03-BA12-S25L-984 Female Heterozygous CAUSAL W92 3 582 03-BU18-A14N-945 Female Heterozygous CAUSAL W92 3 583 03-BA12-D09D-962 Male Heterozygous CAUSAL W92 9 584 03-BA12-A04R-984 Male Heterozygous CAUSAL W92 3 593 03-FA09-J05A-955 Male Heterozygous CAUSAL W92 14 594 03-BO21-C08R-942 Female Heterozygous CAUSAL W92 14 596 03-DE12-M01R-964 Female Heterozygous CAUSAL W92 14 597 03-WA20-D01N-951 Female Heterozygous CAUSAL W92 14 598 03-FA09-D05N-954 Male Heterozygous CAUSAL W92 14 599 03-BA12-G09N-940 Female Heterozygous CAUSAL W92 14 600 03-FA09-S21Z-927 Female Heterozygous CAUSAL W92 14 607 03-FA09-C12E-981 Male Heterozygous CAUSAL W92 14 611 03-TO21-L09N-009 Female Heterozygous CAUSAL W92 14
p.Ser543X	c.1628C>G	10	543	Sm3,CH		Small rearrangement	Tv	C->G	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1893 04-EM01-F12A-988 Female Heterozygous CAUSAL 33 1253 03-DE06-C01R-974 Female Heterozygous CAUSAL W251 33 1265 03-SA12-B05R-948 Male Heterozygous CAUSAL 33