The UMD-MEN1 mutations database
Glu to Deletion mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Glu359del	c.1075_1077delGAG	8	359	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	InF	In frame del	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 134 04-HU19-G09L-962 Male Heterozygous LIKELY CAUSAL W1092 6 135 04-EN15-N09C-950 Female Heterozygous LIKELY CAUSAL W1092 6 811 03-HU19-S25L-962 Female Heterozygous LIKELY CAUSAL W1092 6
p.Glu425_Glu425del	c.1274_1276delAGG	9	425	Ju,Pem,NM,RP,HD,CH		Small rearrangement	InF	In frame del	4
UMD_id Sample ID Gender Mutation status Variation class Family ID References 841 03-DO18-J15C-996 Male Heterozygous CAUSAL W67 9 875 03-DO18-P01T-966 Female Heterozygous CAUSAL W67 3 877 03-GA21-A14N-949 Female Heterozygous CAUSAL W67 9 897 03-GA21-E18N-924 Male Heterozygous CAUSAL W67 9
p.Glu461GlyfsX67	c.1382_1389del	10	461	Pem,NM,CH		Small rearrangement	Fr.	Stop at 527	28
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1812 02-HO18-M15N-939 Female Heterozygous CAUSAL 0 172 04-MO14-G01L-990 Male Heterozygous CAUSAL W2083 0 173 04-MO14-E18I-966 Male Heterozygous CAUSAL W2083 0 174 04-MO14-E12S-996 Female Heterozygous CAUSAL W2083 0 175 04-PA07-S05V-977 Female Heterozygous CAUSAL W120 0 176 04-PA07-J15H-980 Female Heterozygous CAUSAL W120 0 177 04-PA07-E13M-979 Female Heterozygous CAUSAL W120 0 179 04-SA18-C01T-949 Female Heterozygous CAUSAL 0 953 03-JE08-D05B-989 Female Heterozygous CAUSAL W234 0 961 03-BE21-D01N-953 Male Heterozygous CAUSAL W234 0 989 03-HO21-E18I-958 Male Heterozygous CAUSAL W1054 0 1023 03-NA14-C05C-002 Female Heterozygous CAUSAL W120 0 1033 03-PA07-J15N-985 Male Heterozygous CAUSAL W120 0 1035 03-PA07-M09C-954 Male Heterozygous CAUSAL W120 0 1068 03-PA07-S05V-977 Female Heterozygous CAUSAL W120 0 1069 03-PA07-J15H-980 Female Heterozygous CAUSAL W120 0 1070 03-PA07-G05O-931 Male Heterozygous CAUSAL W120 0 1137 03-CU22-F12O-987 Male Heterozygous CAUSAL W234 0 1138 03-BE21-M01T-988 Male Heterozygous CAUSAL W234 0 1143 03-BE21-J05A-956 Male Heterozygous CAUSAL W234 0 1194 03-JE08-M01R-960 Male Heterozygous CAUSAL W234 0 1238 03-JE08-A14D-935 Female Heterozygous CAUSAL W234 0 1554 02-CA14-M09R-961 Female Heterozygous CAUSAL W234 0 1555 02-BE21-A14N-974 Female Heterozygous CAUSAL W234 0 1556 02-CA14-S05B-987 Male Heterozygous CAUSAL W234 0 1777 02-BE21-O12I-985 Male Heterozygous CAUSAL W234 0 1778 02-BE21-F18A-969 Female Heterozygous CAUSAL W234 0 1796 02-DE12-L25D-969 Female Heterozygous CAUSAL W234 0
p.Glu461_Glu466del	c.1382_1399del	10	461	Pem,NM,CH		Small rearrangement	InF	In frame del	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 967 03-NE18-P01T-953 Male Heterozygous LIKELY CAUSAL W242 0 1139 03-CU22-I19A-963 Female Heterozygous LIKELY CAUSAL W264 0
p.Glu461GlyfsX62	c.1382_1404del	10	461	Pem,NM,CH		Small rearrangement	Fr.	Stop at 522	8
UMD_id Sample ID Gender Mutation status Variation class Family ID References 178 04-PO13-S01N-975 Female Heterozygous CAUSAL W157 0 965 03-PO13-S01N-975 Female Heterozygous CAUSAL W157 9 1040 03-PO13-C08R-951 Female Heterozygous CAUSAL W157 9 1061 03-PO13-N01T-974 Female Heterozygous CAUSAL W157 9 1062 03-AU02-F12O-988 Female Heterozygous CAUSAL W157 0 1089 03-AU02-A18N-984 Male Heterozygous CAUSAL W157 0 1094 03-AU02-M01R-948 Male Heterozygous CAUSAL W157 9 1095 03-AU02-F18A-976 Male Heterozygous CAUSAL W157 9
p.Glu486SerfsX73	c.1456delG	10	486	Sm,NM,CH		Small rearrangement	Fr.	Stop at 558	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1344 01-DA14-F18A-970 Male Heterozygous CAUSAL W1087 0
p.Gly531ValfsX28	c.1590delA	10	530	Sm3,CH		Small rearrangement	Fr.	Stop at 558	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 204 04-BR01-R01P-963 Male Heterozygous CAUSAL W200 19 205 04-GI06-J15C-948 Female Heterozygous CAUSAL 19 1092 03-BR01-R01P-963 Male Heterozygous CAUSAL W200 9