The UMD-MEN1 mutations database
Arg to Stop mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Arg29X	c.85C>T	2	29	Ju, NM, RP		Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 269 03-VU10-N01D-979 Female Heterozygous CAUSAL W213 15 305 03-SC08-M01R-955 Female Heterozygous CAUSAL W1070 15 412 03-LI13-S05N-XXX Male Heterozygous CAUSAL 15
p.Arg98X	c.292C>T	2	98	Sm, NM		Small rearrangement	Ts	C->T	32
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1813 02-HO21-M09C-948 Female Heterozygous CAUSAL 14 243 03-PO18-R15M-973 Male Heterozygous CAUSAL W231 9 280 03-MI18-S05B-977 Male Heterozygous CAUSAL W124 9 282 03-JO21-N15L-994 Female Heterozygous CAUSAL W45 8 283 03-BO21-V01N-987 Female Heterozygous CAUSAL W45 8 294 03-PO21-G05N-944 Female Heterozygous CAUSAL W231 7 300 03-PO18-M01R-942 Female Heterozygous CAUSAL W231 9 303 03-MO14-M01R-953 Female Heterozygous CAUSAL W231 9 316 03-CH01-C01T-974 Female Heterozygous CAUSAL W68 9 328 03-MI18-C25R-975 Male Heterozygous CAUSAL W124 9 329 03-MI18-N09C-952 Female Heterozygous CAUSAL W124 9 338 03-MA18-S20E-969 Male Heterozygous CAUSAL W68 9 339 03-CH01-M01R-947 Female Heterozygous CAUSAL W68 9 342 03-MA18-D05N-949 Female Heterozygous CAUSAL W68 9 363 03-BO21-J21L-916 Male Heterozygous CAUSAL W45 7 364 03-BO21-W09L-965 Male Heterozygous CAUSAL W45 9 365 03-VO12-L25D-963 Female Heterozygous CAUSAL W45 3 366 03-JO21-V01L-968 Female Heterozygous CAUSAL W45 9 367 03-BO21-J15E-956 Male Heterozygous CAUSAL W45 9 370 03-BO21-A12A-956 Male Heterozygous CAUSAL W45 9 385 03-MA18-I18E-951 Female Heterozygous CAUSAL 9 391 03-BO21-S01M-990 Male Heterozygous CAUSAL W45 9 396 03-MA18-R01P-002 Male Heterozygous CAUSAL W68 9 398 03-RO25-C08L-009 Female Heterozygous CAUSAL W45 9 411 03-BO21-A12E-000 Female Heterozygous CAUSAL W45 14 419 03-BO14-C12A-995 Female Heterozygous CAUSAL W224 14 420 03-BO14-E13M-997 Female Heterozygous CAUSAL W224 14 426 03-IG14-D01V-988 Male Heterozygous CAUSAL 9 1368 01-GO13-A24E-993 Male Heterozygous CAUSAL W199 14 1369 01-FI05-S01N-972 Female Heterozygous CAUSAL W199 4 1370 01-NE22-C12A-952 Female Heterozygous CAUSAL W199 14 1708 02-PE18-A18T-970 Male Heterozygous CAUSAL 9
p.Arg108X	c.322C>T	2	108	Sm, NM		Small rearrangement	Ts	C->T	10
UMD_id Sample ID Gender Mutation status Variation class Family ID References 29 04-MA08-J05A-948 Male Heterozygous CAUSAL W1079 8 30 04-SI13-C08R-972 Female Heterozygous CAUSAL W1079 8 286 03-DE12-O03E-003 Female Heterozygous CAUSAL W28 8 287 03-DE12-B18I-000 Male Heterozygous CAUSAL W28 8 315 03-RO20-A21R-980 Female Heterozygous CAUSAL W28 3 350 03-DE12-K01R-982 Male Heterozygous CAUSAL W28 7 351 03-DE12-F18A-978 Male Heterozygous CAUSAL W28 7 360 03-DE12-S05R-953 Male Heterozygous CAUSAL W28 7 362 03-PO09-J15S-955 Female Heterozygous CAUSAL W28 7 375 03-DE12-J05A-929 Female Heterozygous CAUSAL W28 9
p.Arg415X	c.1243C>T	9	415	Ju,Pem,NM,RP,HD,CH		Small rearrangement	Ts	C->T	33
UMD_id Sample ID Gender Mutation status Variation class Family ID References 152 04-JO25-F12O-955 Female Heterozygous CAUSAL W2080 8 153 04-JO25-K05V-992 Male Heterozygous CAUSAL W2080 8 154 04-MU12-M01R-961 Female Heterozygous CAUSAL W2079 8 155 04-MU12-E22A-994 Female Heterozygous CAUSAL W2079 8 156 04-MU12-M01T-990 Male Heterozygous CAUSAL W2079 8 157 04-OB09-R15S-960 Female Heterozygous CAUSAL 8 826 03-BI07-S01N-980 Female Heterozygous CAUSAL 5 850 03-MI19-D05B-985 Female Heterozygous CAUSAL W9 3 852 03-SI03-C01R-963 Female Heterozygous CAUSAL W9 3 853 03-SC08-V09N-929 Male Heterozygous CAUSAL W9 3 854 03-SC08-B18U-938 Male Heterozygous CAUSAL W9 3 870 03-BE14-A04R-970 Female Heterozygous CAUSAL W9 8 879 03-SC08-L09N-971 Female Heterozygous CAUSAL W9 12 880 03-GR05-C15S-952 Male Heterozygous CAUSAL W9 12 881 03-GR05-V09N-949 Male Heterozygous CAUSAL W9 12 882 03-MI19-M01R-962 Female Heterozygous CAUSAL W9 12 884 03-SC08-D01N-972 Male Heterozygous CAUSAL W9 8 885 03-SC08-J15S-965 Female Heterozygous CAUSAL W9 8 886 03-SC08-S05R-969 Male Heterozygous CAUSAL W9 8 887 03-GR05-F01N-981 Female Heterozygous CAUSAL W9 8 888 03-GR05-S20E-981 Female Heterozygous CAUSAL W9 8 889 03-GR05-L09O-979 Male Heterozygous CAUSAL W9 8 906 03-SA14-C12A-000 Female Heterozygous CAUSAL W9 8 907 03-SA14-C01S-000 Female Heterozygous CAUSAL W9 8 1385 01-GR01-G21I-995 Male Heterozygous CAUSAL W1117 14 1386 01-GR01-P01S-959 Male Heterozygous CAUSAL W1117 14 1387 01-GR01-A18N-997 Male Heterozygous CAUSAL W1117 9 1388 01-GR01-G01S-934 Male Heterozygous CAUSAL W1117 9 1412 01-MA19-P01T-952 Male Heterozygous CAUSAL W136 27 1413 01-MA19-F01N-976 Female Heterozygous CAUSAL W136 27 1414 01-MA19-J15H-979 Male Heterozygous CAUSAL W136 27 1415 01-MA19-D05L-981 Female Heterozygous CAUSAL W136 27 1702 02-JO25-I14G-989 Female Heterozygous CAUSAL W2080 27
p.Arg460X	c.1378C>T	10	460	Pem,NM,CH		Small rearrangement	Ts	C->T	55
UMD_id Sample ID Gender Mutation status Variation class Family ID References 361 03-LA03-P08L-947 Male Heterozygous CAUSAL W11 6 960 03-CH01-P08L-965 Male Heterozygous CAUSAL W128 14 963 03-SU02-A14N-944 Female Heterozygous CAUSAL W258 14 969 03-MA21-V09N-981 Male Heterozygous CAUSAL W255 14 971 03-LA16-M01T-984 Male Heterozygous CAUSAL W78 0 972 03-LA16-M21R-958 Female Heterozygous CAUSAL W78 14 982 03-CH01-V01L-964 Female Heterozygous CAUSAL W128 21 988 03-BO04-M01R-937 Female Heterozygous CAUSAL W269 21 995 03-GR05-L01U-996 Female Heterozygous CAUSAL W244 6 996 03-GR05-E12O-998 Female Heterozygous CAUSAL W244 6 997 03-RO20-A14N-982 Female Heterozygous CAUSAL W269 6 998 03-BO04-G21Y-969 Male Heterozygous CAUSAL W269 6 1024 03-YG05-B05R-928 Male Heterozygous CAUSAL W96 3 1027 03-VI07-J21L-997 Male Heterozygous CAUSAL W26 14 1036 03-HE09-S25L-955 Female Heterozygous CAUSAL W169 15 1037 03-NO02-L21C-927 Female Heterozygous CAUSAL W169 15 1042 03-NO02-D15M-960 Male Heterozygous CAUSAL W169 15 1049 03-PA14-J05A-958 Male Heterozygous CAUSAL W192 21 1052 03-PA14-F01B-957 Male Heterozygous CAUSAL W192 21 1057 03-FU19-F18E-975 Male Heterozygous CAUSAL W244 15 1066 03-PO09-G18E-981 Male Heterozygous CAUSAL W96 21 1071 03-VA19-V01L-987 Female Heterozygous CAUSAL W96 9 1078 03-VI07-L01U-991 Male Heterozygous CAUSAL W26 14 1088 03-PO09-A14T-985 Male Heterozygous CAUSAL W96 15 1098 03-UR02-M01R-943 Female Heterozygous CAUSAL W88 15 1110 03-VI07-J05A-944 Male Heterozygous CAUSAL W26 14 1111 03-VI07-O12I-962 Male Heterozygous CAUSAL W26 14 1112 03-GO09-C08R-984 Female Heterozygous CAUSAL W26 14 1118 03-VA19-A18M-962 Female Heterozygous CAUSAL W96 21 1129 03-FU19-M09C-949 Male Heterozygous CAUSAL W244 3 1131 03-LE20-D05N-932 Female Heterozygous CAUSAL W96 3 1132 03-GR05-L01U-976 Female Heterozygous CAUSAL W244 3 1136 03-GO09-I19A-957 Female Heterozygous CAUSAL W26 14 1140 03-AM05-L09L-942 Female Heterozygous CAUSAL W26 14 1159 03-GO21-D01N-946 Male Heterozygous CAUSAL W78 15 1167 03-DE19-P01U-938 Female Heterozygous CAUSAL W243 27 1170 03-PO09-M01R-952 Female Heterozygous CAUSAL W96 27 1200 03-YG05-Y15H-003 Male Heterozygous CAUSAL W96 21 1205 03-LE07-J05A-956 Male Heterozygous CAUSAL W2038 14 1207 03-LE07-D09D-972 Male Heterozygous CAUSAL W2038 14 1209 03-LE07-N05L-966 Female Heterozygous CAUSAL W2038 14 1233 03-BR09-N09C-979 Male Heterozygous CAUSAL 21 1283 03-BA18-V09R-972 Female Heterozygous CAUSAL 21 1384 01-GI18-J01C-939 Female Heterozygous CAUSAL W1095 14 1449 01-RO20-M01X-009 Male Heterozygous CAUSAL W269 14 1450 01-RO20-Y01N-978 Male Heterozygous CAUSAL W269 14 1451 01-RO20-A14N-947 Female Heterozygous CAUSAL W269 14 1531 02-LE03-B18U-961 Male Heterozygous CAUSAL 15 1537 02-FO18-P08I-961 Male Heterozygous CAUSAL W202 3 1538 02-FO18-S15L-966 Female Heterozygous CAUSAL W202 3 1539 02-CI20-N01I-997 Female Heterozygous CAUSAL W202 3 1542 02-DE18-M01R-948 Female Heterozygous CAUSAL W202 3 1543 02-CI20-S15P-973 Female Heterozygous CAUSAL W202 3 1618 02-AM05-L09L-942 Female Heterozygous CAUSAL W26 21 1665 02-HE03-J10R-990 Male Heterozygous CAUSAL 21
p.Arg527X	c.1579C>T	10	527	Sm3,CH		Small rearrangement	Ts	C->T	16
UMD_id Sample ID Gender Mutation status Variation class Family ID References 990 03-VE14S05B-975 Male Heterozygous CAUSAL W4 6 991 03-VE14-Y22E-947 Female Heterozygous CAUSAL W4 6 1053 03-PE18-C08R-949 Female Heterozygous CAUSAL W4 25 1058 03-GR15-J05A-963 Male Heterozygous CAUSAL 696 0 1072 03-ST15-J15N-985 Male Heterozygous CAUSAL W25 25 1113 03-GU02-B18U-957 Male Heterozygous CAUSAL W4 25 1117 03-EU26-S25L-956 Female Heterozygous CAUSAL W25 25 1128 03-FR05-P01S-959 Male Heterozygous CAUSAL W4 21 1152 03-BE18-M01R-923 Female Heterozygous CAUSAL W4 25 1166 03-GU02-C08R-955 Male Heterozygous CAUSAL W4 25 1169 03-ST15-D05N-952 Male Heterozygous CAUSAL W25 25 1175 03-ST15-L15U-928 Male Heterozygous CAUSAL W25 25 1189 03-GU02-G09L-958 Male Heterozygous CAUSAL W4 21 1254 03-GU02-S09M-949 Female Heterozygous CAUSAL W4 25 1258 03-KO08-A14G-XXX Female Heterozygous CAUSAL 27 1704 02-ST15-L15U-954 Male Heterozygous CAUSAL W25 21