The UMD-MEN1 mutations database
Ala to Deletion mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Glu195ThrfsX21	c.582_606del	3	194	Ju,Sm,NMH,HD,NM		Small rearrangement	Fr.	Stop at 215	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 48 04-LE03-D05N-969 Male Heterozygous CAUSAL 0
p.Ala213ProfsX11	c.637delG	3	213	Ju,Sm,NMH,HD,NM		Small rearrangement	Fr.	Stop at 223	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 460 03-DO19-S01B-991 Female Heterozygous CAUSAL W195 0 471 03-DO19-A18S-964 Male Heterozygous CAUSAL W195 0 1364 01-DO19-R15S-967 Female Heterozygous CAUSAL W195 0
p.Met239HisfsX2	c.711_733del	4	237	Ju,Sm,NM,NMH,FA,HD		Small rearrangement	Fr.	Stop at 240	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 608 03-PI03-J01C-941 Male Heterozygous CAUSAL W2010 0 609 03-BO21-M01X-003 Male Heterozygous CAUSAL w31 0 610 03-PI03-K01R-975 Female Heterozygous CAUSAL W2010 0
p.Ala340ProfsX28	c.1018delG	7	340	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Fr.	Stop at 367	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 713 Male Heterozygous CAUSAL W267 0 714 03-MO14-C08R-957 Male Heterozygous CAUSAL W267 0
p.Leu500TrpfsX59	c.1497delA	10	499	Sm3,CH		Small rearrangement	Fr.	Stop at 558	4
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1134 03-TR15-F01B-970 Male Heterozygous CAUSAL W77 9 1142 03-TR15-M01G-984 Female Heterozygous CAUSAL W77 7 1155 03-TR15-R15L-934 Male Heterozygous CAUSAL W77 3 1156 03-TR15-B05R-957 Male Heterozygous CAUSAL W77 3
p.Ala535ThrfsX12	c.1603_1631del	10	535	Sm3,CH		Small rearrangement	Fr.	Stop at 546	7
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1383 01-GE22-D15R-970 Female Heterozygous CAUSAL W167 0 1377 01-GE22-P01T-968 Male Heterozygous CAUSAL W167 0 1378 01-CO18-M09C-000 Female Heterozygous CAUSAL W167 0 1379 01-GE22-C05D-968 Male Heterozygous CAUSAL W167 0 1380 01-CO18-T08B-998 Male Heterozygous CAUSAL W167 0 1381 01-CO18-T15M-000 Male Heterozygous CAUSAL W167 0 1382 01-CO18-A12A-967 Male Heterozygous CAUSAL W167 0