The
UMD-MEN1
mutations database
Arg to Insertion mutations
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Arg516ProfsX15
c.1546dup
10
516
Sm3,CH
Small rearrangement
Fr.
Stop at 530
115
UMD_id
Sample ID
Gender
Mutation status
Variation class
Family ID
References
1892
04-ME14-L21E-983
Female
Heterozygous
CAUSAL
21
187
04-BE18-M25R-971
Female
Heterozygous
CAUSAL
W1052
21
191
04-DU13-J05A-964
Male
Heterozygous
CAUSAL
W172
21
192
04-FO18-A14N-932
Female
Heterozygous
CAUSAL
W84
21
193
04-GR01-S01B-950
Female
Heterozygous
CAUSAL
W1096
21
195
04-JE26-P05R-995
Female
Heterozygous
CAUSAL
W2086
21
196
04-JE26-H21G-953
Female
Heterozygous
CAUSAL
W2086
21
197
04-MA18-L21C-988
Female
Heterozygous
CAUSAL
W2086
21
198
04-MA18-G23E-986
Female
Heterozygous
CAUSAL
W2086
21
201
04-PI14-A12E-982
Male
Heterozygous
CAUSAL
W1055
21
202
04-PO16-H21G-967
Male
Heterozygous
CAUSAL
W1083
21
203
04-RE19-B05R-940
Female
Heterozygous
CAUSAL
W216
21
1126
03-MO08-N01D-990
Male
Heterozygous
CAUSAL
W1110
21
952
03-AB02-E13I-990
Female
Heterozygous
CAUSAL
W172
21
956
03-FU07-V09N-976
Male
Heterozygous
CAUSAL
W1119
3
964
03-SI24-B05A-963
Female
Heterozygous
CAUSAL
W1067
3
968
03-MO08-S13A-953
Male
Heterozygous
CAUSAL
W1110
3
975
03-GR01-L21C-975
Male
Heterozygous
CAUSAL
W1096
3
992
03-AR14-G21Y-971
Male
Heterozygous
CAUSAL
W1067
3
999
03-LE17-F01B-968
Female
Heterozygous
CAUSAL
W215
7
1002
03-TR05-D09M-990
Male
Heterozygous
CAUSAL
W216
3
1003
03-SA14-B05A-965
Female
Heterozygous
CAUSAL
W216
3
1013
03-CH05-I12A-990
Male
Heterozygous
CAUSAL
W179
15
1014
03-CH05-L09S-987
Female
Heterozygous
CAUSAL
W179
15
1015
03-CH05-M01R-958
Female
Heterozygous
CAUSAL
W179
15
1025
03-KO18-H05L-944
Female
Heterozygous
CAUSAL
W84
3
1026
03-KO18-A18I-978
Female
Heterozygous
CAUSAL
W84
3
1043
03-KO18-M01Y-976
Female
Heterozygous
CAUSAL
W84
21
1048
03-DU13-J05A-964
Male
Heterozygous
CAUSAL
W172
21
1050
03-MO18-M09C-947
Female
Heterozygous
CAUSAL
W44
21
1054
03-TR05-V05R-964
Female
Heterozygous
CAUSAL
W216
21
1055
03-PO09-B05R-952
Female
Heterozygous
CAUSAL
W6
21
1056
03-JA25-J05A-951
Male
Heterozygous
CAUSAL
W6
21
1067
03-PI05-A21R-986
Female
Heterozygous
CAUSAL
W84
21
1076
03-JA25-S01N-980
Female
Heterozygous
CAUSAL
W6
21
1077
03-JA25-M01R-986
Female
Heterozygous
CAUSAL
W6
21
1086
03-CH21-S01B-981
Female
Heterozygous
CAUSAL
W6
21
1091
03-HA21-M01U-929
Male
Heterozygous
CAUSAL
W177
21
1093
03-HA21-N15R-971
Male
Heterozygous
CAUSAL
W177
21
1097
03-LE17-P09E-926
Male
Heterozygous
CAUSAL
W215
21
1099
03-YA04-L01U-975
Female
Heterozygous
CAUSAL
W1049
21
1100
03-DU13-J05A-941
Male
Heterozygous
CAUSAL
W172
21
1101
03-AB02-L01U-966
Female
Heterozygous
CAUSAL
W172
21
1105
03-DH08-S25L-971
Female
Heterozygous
CAUSAL
W1055
21
1109
03-SA02-M09C-945
Male
Heterozygous
CAUSAL
W44
21
1119
03-HI22-G05R-957
Male
Heterozygous
CAUSAL
W8
21
1144
03-CA07-H05L-935
Female
Heterozygous
CAUSAL
W84
21
1145
03-PI05-G08I-960
Male
Heterozygous
CAUSAL
W84
21
1146
03-CH21-P01T-959
Female
Heterozygous
CAUSAL
W6
21
1147
03-JA25-R01Y-926
Male
Heterozygous
CAUSAL
W6
21
1150
03-JA04-G05R-936
Male
Heterozygous
CAUSAL
W38
21
1153
03-LA22-A07N-968
Female
Heterozygous
CAUSAL
W35
21
1154
03-JA25-O03T-952
Male
Heterozygous
CAUSAL
W6
21
1157
03-JA25-F01B-971
Male
Heterozygous
CAUSAL
W6
21
1162
03-MO18-R15G-920
Male
Heterozygous
CAUSAL
W44
21
1176
03-SA14-A04R-003
Male
Heterozygous
CAUSAL
W216
21
1177
03-SA14-C12E-000
Male
Heterozygous
CAUSAL
W216
21
1179
03-SA14-L21C-998
Female
Heterozygous
CAUSAL
W216
21
1190
03-HA21-B05N-003
Male
Heterozygous
CAUSAL
W177
21
1195
03-MO21-C25R-974
Male
Heterozygous
CAUSAL
W2034
21
1196
03-MO21-C08R-954
Male
Heterozygous
CAUSAL
W2034
21
1202
03-GU09-M01R-954
Female
Heterozygous
CAUSAL
3
1630
02-BO21-D09N-000
Female
Heterozygous
CAUSAL
W2045
21
1239
03-NA18-M01U-956
Male
Heterozygous
CAUSAL
21
1263
03-BE18-M09C-945
Male
Heterozygous
CAUSAL
21
1269
03-HA21-V01L-998
Male
Heterozygous
CAUSAL
W177
21
1272
03-PI14-S25L-971
Female
Heterozygous
CAUSAL
W1055
21
1325
01-LE07-I19A-971
Female
Heterozygous
CAUSAL
W35
3
1326
01-DE12-A07N-968
Female
Heterozygous
CAUSAL
W35
3
1327
01-LA22-M01R-003
Female
Heterozygous
CAUSAL
W35
3
1328
01-DE12-F05R-945
Female
Heterozygous
CAUSAL
W35
3
1329
01-CA26-B05R-952
Male
Heterozygous
CAUSAL
W35
3
1330
01-CA26-C05C-985
Female
Heterozygous
CAUSAL
W35
3
1331
01-CA26-S05B-990
Male
Heterozygous
CAUSAL
W35
3
1332
01-CA26-A14D-926
Male
Heterozygous
CAUSAL
W35
3
1333
01-SU13-P01S-959
Female
Heterozygous
CAUSAL
W35
3
1334
01-SU13-D15M-955
Female
Heterozygous
CAUSAL
W35
3
1335
01-SU13-J05A-932
Female
Heterozygous
CAUSAL
W35
3
1336
01-LE03-M01R-000
Female
Heterozygous
CAUSAL
W35
3
1337
01-LE03-R05N-000
Male
Heterozygous
CAUSAL
W35
3
1338
01-LE03-C05C-000
Female
Heterozygous
CAUSAL
W35
3
1371
01-FO18-J15S-961
Female
Heterozygous
CAUSAL
W84
21
1396
01-VE12-J15N-985
Male
Heterozygous
CAUSAL
W6
12
1397
01-PO09-I19A-979
Female
Heterozygous
CAUSAL
W6
12
1398
01-JA25-A24E-998
Male
Heterozygous
CAUSAL
W6
12
1399
01-JA25-A14N-984
Female
Heterozygous
CAUSAL
W6
12
1400
01-VI12-C15R-969
Female
Heterozygous
CAUSAL
W6
12
1401
01-JA25-J05A-928
Female
Heterozygous
CAUSAL
W6
12
1402
01-DE17-M01D-924
Female
Heterozygous
CAUSAL
W6
12
1404
01-PO16-L01U-961
Female
Heterozygous
CAUSAL
W1083
14
1405
01-DE06-C08A-932
Female
Heterozygous
CAUSAL
W1083
14
1407
01-MO18-Z15E-002
Female
Heterozygous
CAUSAL
W215
14
1417
01-ME09-M01R-924
Male
Heterozygous
CAUSAL
W1047
14
1527
02-RE19-M25R-962
Female
Heterozygous
CAUSAL
W216
7
1528
02-RE19-V09N-970
Male
Heterozygous
CAUSAL
W216
7
1529
02-RE19-D01V-996
Male
Heterozygous
CAUSAL
W216
7
1544
02-LE13-C01T-956
Female
Heterozygous
CAUSAL
21
1545
02-PE20-B05T-956
Female
Heterozygous
CAUSAL
W6
21
1546
02-PE20-S05B-979
Male
Heterozygous
CAUSAL
W6
21
1565
02-DE12-C01M-939
Female
Heterozygous
CAUSAL
W1088
7
1566
02-DE12-H05N-934
Male
Heterozygous
CAUSAL
W1088
3
1610
02-CO08-Y22A-964
Male
Heterozygous
CAUSAL
W179
15
1611
02-CO08-M09C-971
Male
Heterozygous
CAUSAL
W179
15
1612
02-CO08-A12F-960
Male
Heterozygous
CAUSAL
W179
15
1628
02-BO21-M05B-948
Female
Heterozygous
CAUSAL
W2045
21
1629
02-BO21-R01C-000
Male
Heterozygous
CAUSAL
W2045
21
1631
02-BO21-S01M-000
Female
Heterozygous
CAUSAL
W2045
21
1632
02-ZA26-M15H-007
Male
Heterozygous
CAUSAL
W2061
21
1633
02-ZA26-L09N-013
Female
Heterozygous
CAUSAL
W2061
21
1786
02-CA18-A12A-959
Male
Heterozygous
CAUSAL
21
1787
02-CO08-P01U-938
Female
Heterozygous
CAUSAL
W179
21
1837
02-RO03-J15N-984
Male
Heterozygous
CAUSAL
W2026
21
1838
02-RO03-L01U-961
Female
Heterozygous
CAUSAL
W2026
21
1839
02-RO03-C12A-990
Female
Heterozygous
CAUSAL
W2026
21
1888
04-TO13-A14D-981
Male
Heterozygous
CAUSAL
21