The UMD-MEN1 mutations database
Arg to Deletion mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Arg92AlafsX27	c.274delC	2	92	Sm, NM		Small rearrangement	Fr.	Stop at 118	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 308 03-PA18-A21R-979 Female Heterozygous CAUSAL W164 9 324 03-PA18-G21Y-949 Male Heterozygous CAUSAL W164 9
p.Arg335_Leu338del	c.1004_1015del	7	335	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1921 04-LA02-A14-988 Male LIKELY CAUSAL 0
p.Gln453ArgfsX5	c.1356delG	10	452	Pem,NM,CH		Small rearrangement	Fr.	Stop at 457	5
UMD_id Sample ID Gender Mutation status Variation class Family ID References 957 03-BU09-L25D-975 Female Heterozygous CAUSAL W1140 0 962 03-VI14-F01B-976 Female Heterozygous CAUSAL W1105 0 1130 03-BU09-F18A-940 Female Heterozygous CAUSAL W1140 0 1243 03-BO03-A04R-948 Male Heterozygous CAUSAL 0 1284 03-BA18-C12A-954 Female Heterozygous CAUSAL 0
p.Glu461_Ala464del	c.1380_1391del	10	460	Pem,NM,CH		Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1453 01-SE11-M01R-950 Female Heterozygous UV W1018 0
p.Arg516GlyfsX43	c.1546delC	10	516	Sm3,CH		Small rearrangement	Fr.	Stop at 558	20
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1887 04-AM16-S20E-973 Female Heterozygous CAUSAL W13 21 186 04-BA21-D01P-974 Female Heterozygous CAUSAL W2085 2 188 04-BR21-S20E-973 Female Heterozygous CAUSAL W13 2 190 04-CH01-F12O-959 Female Heterozygous CAUSAL 2 194 04-LE02-A12E-991 Male Heterozygous CAUSAL 2 199 04-MA18-M05L-993 Female Heterozygous CAUSAL W89 2 200 04-MA18-A12I-993 Female Heterozygous CAUSAL W89 2 978 03-FR05-M09C-984 Female Heterozygous CAUSAL W13 31 1073 03-MA18-M05L-993 Female Heterozygous CAUSAL W89 21 1082 03-FR05-C12A-962 Male Heterozygous CAUSAL W13 21 1083 03-FR05-C08R-975 Female Heterozygous CAUSAL W13 21 1135 03-MA18-C15R-966 Female Heterozygous CAUSAL W89 21 1141 03-GO13-J05A-927 Male Heterozygous CAUSAL W13 3 1172 03-FR05-C05C-934 Female Heterozygous CAUSAL W13 21 1173 03-LA12-M09R-947 Female Heterozygous CAUSAL W13 31 1206 03-CA12-G05O-943 Male Heterozygous CAUSAL W2054 7 1220 03-CA12-J05A-969 Male Heterozygous CAUSAL W2054 21 1232 03-FO21-R15L-950 Male Heterozygous CAUSAL 21 1234 03-MU14-A14T-935 Male Heterozygous CAUSAL 21 1240 03-BA21-A18N-991 Male Heterozygous CAUSAL W2085 21
p.Arg527GlufsX32	c.1579delC	10	527	Sm3,CH		Small rearrangement	Fr.	Stop at 558	11
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1012 03-PO09-M01R-979 Female Heterozygous CAUSAL W181 0 987 03-HA19-M05L-989 Female Heterozygous CAUSAL W181 0 1010 03-HA19-C12A-950 Male Heterozygous CAUSAL W181 0 1011 03-GA02-S15P-988 Female Heterozygous CAUSAL W181 0 1044 03-GA02-M01R-953 Female Heterozygous CAUSAL W181 0 1045 03-PO09-R05N-955 Female Heterozygous CAUSAL W181 0 1046 03-PO09-E13I-983 Female Heterozygous CAUSAL W181 0 1059 03-MO14-J05A-934 Male Heterozygous CAUSAL W182 0 1060 03-MO14-O12I-962 Male Heterozygous CAUSAL W182 0 1090 03-HA19-M09C-951 Male Heterozygous CAUSAL W181 0 1247 03-GA02-S05B-983 Male Heterozygous CAUSAL W181 0