The UMD-MEN1 mutations database
Leu to Deletion mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Leu3X	c.7delC	2	3	Ju, NM, RP		Small rearrangement	Fr.	Stop at 3	8
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1835 02-RE13-Y22E-920 Female Heterozygous CAUSAL W2023 0 307 03-GA13-D15M-968 Female Heterozygous CAUSAL W69 0 422 03-GA13-A14N-994 Female Heterozygous CAUSAL W69 0 1445 02-RE13-A12A-952 Male Heterozygous CAUSAL W2023 0 1831 02-RE13-A12I-981 Female Heterozygous CAUSAL W2023 0 1832 02-RE13-C05C-988 Female Heterozygous CAUSAL W2023 0 1833 02-RE13-G21Y-947 Male Heterozygous CAUSAL W2023 0 1834 02-RE13-M09C-985 Male Heterozygous CAUSAL W2023 0
p.Leu27ArgfsX89	c.79_88del	2	27	Ju, NM, RP		Small rearrangement	Fr.	Stop at 115	4
UMD_id Sample ID Gender Mutation status Variation class Family ID References 261 03-GE15-L21D-971 Male Heterozygous CAUSAL W1059 0 262 03-GE15-C08R-973 Male Heterozygous CAUSAL W1059 0 389 03-GE15-M09C-947 Male Heterozygous CAUSAL W1059 20 1664 02-MI12-D01M-969 Male Heterozygous CAUSAL 0
p.Leu37_Leu41del	c.108_122del	2	36	Ju, NM, RP		Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1927 02-VA18-V09-990 Male LIKELY CAUSAL W2018-11 0
p.Ile85SerfsX33	c.247_250delCTGT	2	83	Sm, NM		Small rearrangement	Fr.	Stop at 117	7
UMD_id Sample ID Gender Mutation status Variation class Family ID References 327 03-CH01-D15M-953 Male Heterozygous CAUSAL W152 0 1322 01-BU09-E04I-960 Female Heterozygous CAUSAL W152 0 1522 02-HI09-M09C-945 Female Heterozygous CAUSAL W2059 0 1523 02-HI09-M25R-979 Female Heterozygous CAUSAL W2059 0 1524 02-GI01-E19T-968 Female Heterozygous CAUSAL W2003 0 1525 02-GI01-R15B-995 Male Heterozygous CAUSAL W2003 0 1526 02-GI01-M15R-990 Female Heterozygous CAUSAL W2003 0
p.Ile85SerfsX33	c.249_252delGTCT	2	83	Sm, NM		Small rearrangement	Fr.	Stop at 117	45
UMD_id Sample ID Gender Mutation status Variation class Family ID References 22 04-BI03-S15F-004 Male Heterozygous CAUSAL W22 8 23 04-GR26-G09S-957 Female Heterozygous CAUSAL 8 24 04-LA13-A12A-958 Male Heterozygous CAUSAL W7 8 25 04-SU01-J01D-987 Female Heterozygous CAUSAL W257 8 231 03-MA08-B12A-972 Male Heterozygous CAUSAL W257 8 250 03-BO21-N01D-955 Female Heterozygous CAUSAL 8 251 03-MA08-A12E-987 Male Heterozygous CAUSAL W257 8 252 03-MA08-P01T-951 Male Heterozygous CAUSAL W257 8 253 03-SU01-E04I-958 Female Heterozygous CAUSAL W257 8 258 03-OS12-C08A-998 Female Heterozygous CAUSAL W1038 8 259 03-OS12-Y22E-942 Female Heterozygous CAUSAL W1038 8 276 03-RO13-S05B-977 Male Heterozygous CAUSAL W130 12 277 03-DE22-N01T-989 Female Heterozygous CAUSAL W130 9 278 03-DE12-C08R-964 Male Heterozygous CAUSAL W130 9 290 03-LA13-V01L-000 Female Heterozygous CAUSAL W7 2 292 03-JU09-M01R-950 Female Heterozygous CAUSAL W130 2 295 03-LA13-P09E-951 Male Heterozygous CAUSAL W7 8 296 03-LA13-M01R-960 Female Heterozygous CAUSAL W7 8 302 03-PA18-J05A-960 Female Heterozygous CAUSAL W130 8 309 03-VI14-C08R-951 Male Heterozygous CAUSAL W86 15 313 03-GA14-D10A-991 Male Heterozygous CAUSAL W22 7 314 03-GA14-D01O-995 Female Heterozygous CAUSAL W22 7 317 03-BI03-S09H-984 Female Heterozygous CAUSAL W22 15 321 03-CH05-B05R-955 Female Heterozygous CAUSAL W7 15 330 03-GA14-S01M-986 Female Heterozygous CAUSAL W22 15 334 03-RO21-S05B-972 Male Heterozygous CAUSAL W143 15 335 03-RO21-C01R-975 Female Heterozygous CAUSAL W143 15 336 03-R021-M01R-953 Female Heterozygous CAUSAL W143 15 341 03-BA21-I18E-923 Female Heterozygous CAUSAL W102 15 344 03-BI03-M15H-977 Male Heterozygous CAUSAL W22 15 347 03-PH09-V09N-962 Male Heterozygous CAUSAL W130 15 356 03-GA14-A13A-954 Male Heterozygous CAUSAL W22 15 357 03-LA13-GE14-949 Female Heterozygous CAUSAL W7 15 368 03-BI03-K08E-952 Female Heterozygous CAUSAL W22 15 371 03-MA18-R15S-947 Female Heterozygous CAUSAL W113 15 381 03-MA18-S01C-010 Male Heterozygous CAUSAL W2078 15 397 03-LE07-M15N-954 Female Heterozygous CAUSAL W130 15 403 03-MA18-A04R-981 Male Heterozygous CAUSAL W2078 15 405 03-OS12-J05A-969 Male Heterozygous CAUSAL W1038 15 410 03-SU01-A14N-976 Female Heterozygous CAUSAL W257 15 417 03-NU05-Z09G-985 Male Heterozygous CAUSAL 15 1896 03-MA18-A12Y-006 Female Heterozygous CAUSAL W2078 15 1290 01-AR03-J05A-947 Male Heterozygous CAUSAL W198 15 1662 02-LE18-M01R-970 Male Heterozygous CAUSAL 21 1775 02-BA21-J15H-948 Male Heterozygous CAUSAL W102 15
p.Leu89_Ala95del	c.266_286del	2	89	Sm, NM		Small rearrangement	InF	In frame del	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1771 02-AL02-P08I-951 Male Heterozygous UV W2001 0 1795 02-DEO-A12Z-967 Female Heterozygous UV W2001 0
p.Leu103ProfsX15	c.307_310delCTGT	2	103	Sm, NM		Small rearrangement	Fr.	Stop at 117	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 291 03-RO26-A14N-982 Female Heterozygous CAUSAL W252 0
p.Ser104ProfsX15	c.309delG	2	103	Sm, NM		Small rearrangement	Fr.	Stop at 118	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1320 01-BR21-J01C-950 Female Heterozygous CAUSAL 0
p.Gly169ValfsX16	c.504delG	3	168	Ju,Sm,NMH,HD,NM		Small rearrangement	Fr.	Stop at 184	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1785 02-CA18-P01T-979 Male Heterozygous CAUSAL 0
p.Leu223X	c.667delC	4	223	Ju,Sm,NM,NMH,FA,HD		Small rearrangement	Fr.	Stop at 223	12
UMD_id Sample ID Gender Mutation status Variation class Family ID References 560 03-RA02-N15E-004 Female Heterozygous CAUSAL W27 3 561 03-RA02-L21C-002 Male Heterozygous CAUSAL W27 3 568 03-ME18-E04W-958 Female Heterozygous CAUSAL W27 3 573 03-ME18-A14T-988 Male Heterozygous CAUSAL W27 9 575 03-GUO9-D01N-948 Male Heterozygous CAUSAL W27 3 580 03-RA02-S20E-975 Male Heterozygous CAUSAL W27 3 602 03-BR15-S25L-971 Female Heterozygous CAUSAL W27 3 603 03-GU09-B05R-947 Male Heterozygous CAUSAL W27 3 604 03-GU09-D01V-973 Male Heterozygous CAUSAL W27 3 605 03-GU09-H05L-978 Female Heterozygous CAUSAL W27 3 606 03-RA02-C08R-951 Female Heterozygous CAUSAL W27 3 1553 02-MO18-S15P-968 Female Heterozygous CAUSAL 3
p.Leu223ArgfsX58	c.668delT	4	223	Ju,Sm,NM,NMH,FA,HD		Small rearrangement	Fr.	Stop at 280	7
UMD_id Sample ID Gender Mutation status Variation class Family ID References 586 03-TO18-O04E-925 Female Heterozygous CAUSAL W16 9 587 03-TO18-R05N-943 Female Heterozygous CAUSAL W16 9 588 03-WA18-C08R-985 Male Heterozygous CAUSAL W16 9 589 03-WA18-D05N-952 Female Heterozygous CAUSAL W16 9 590 03-LE02-C12A-955 Female Heterozygous CAUSAL W16 9 591 03-BO14-J05A-958 Male Heterozygous CAUSAL W16 9 1609 02-WA18-C08L-006 Female Heterozygous CAUSAL W16 9
p.Leu254ArgfsX27	c.761delT	4	254	Sm,NM,NMH,FA,HD		Small rearrangement	Fr.	Stop at 280	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 565 03-FE18-N09C-979 Male Heterozygous CAUSAL W1041 0 1416 01-MA26-S25L-981 Female Heterozygous CAUSAL 0
p.Leu259ArgfsX22	c.776delT	4	259	Sm,NM,NMH,FA,HD		Small rearrangement	Fr.	Stop at 280	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1367 01-FA07-S01B-981 Female Heterozygous CAUSAL 0
p.Leu404SerfsX41	c.1210delC	9	404	Ju,Pem,NM,RP,HD,CH		Small rearrangement	Fr.	Stop at 444	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 146 04-KH15-R09M-981 Female Heterozygous CAUSAL W188 0 147 04-KH15-B15U-963 Female Heterozygous CAUSAL W188 0 148 04-KH15-C08A-100 Female Heterozygous CAUSAL W188 0
p.Leu414_Leu414del	c.1241_1243delTGC	9	414	Ju,Pem,NM,RP,HD,CH		Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1947 04-HA13-S09-964 Female CAUSAL 0
p.Leu444X	c.1330delC	9	444	Pem,NM,RP,HD,CH		Small rearrangement	Fr.	Stop at 444	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 163 04-AY05-M09C-976 Male Heterozygous CAUSAL W2082 0 164 04-AY05-D25L-998 Male Heterozygous CAUSAL W2082 0 165 04-AY05-E25T-006 Male Heterozygous CAUSAL W2082 0
p.Leu565ArgfsX23	c.1694delT	10	565	Sm,ASK,CH		Small rearrangement	Fr.	Stop at 587	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1603 02-PE20-T08O-990 Male Heterozygous CAUSAL W2032 0