The UMD-MEN1 mutations database
Ile to Deletion mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Ile125MetfsX54	c.375_376delAT	2	125	Sm, NM		Small rearrangement	Fr.	Stop at 178	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 319 03-JO19-C08A-955 Female Heterozygous CAUSAL W114 9 320 03-JO19-S01B-983 Female Heterozygous CAUSAL W114 9 323 03-DE21-B05R-952 Male Heterozygous CAUSAL W114 9
p.Ile147_Ile147del	c.440_442delTCA	2	147	Ju, Sm,NM,HD		Small rearrangement	InF	In frame del	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1936 04-MO11-K01-964 Female CAUSAL 0 402 03-BE01-G05R-008 Female Heterozygous UV 20
p.Ile372ThrfsX5	c.1115delT	8	372	Ju,NF,Pem,NM,RP,FA,mS,HD		Small rearrangement	Fr.	Stop at 376	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 788 03-OT08-D05N-944 Female Heterozygous CAUSAL W228 0 789 03-OT08-N15R-937 Male Heterozygous CAUSAL W228 0 804 03-OT08-B18I-960 Female Heterozygous CAUSAL W228 0