The UMD-MEN1 mutations database
Thr to Deletion mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Tyr77ThrfsX42	c.228delC	2	76	Sm, NM		Small rearrangement	Fr.	Stop at 118	5
UMD_id Sample ID Gender Mutation status Variation class Family ID References 352 03-VI14-A14T-958 Male Heterozygous CAUSAL W80 7 353 03-VI14-D15M-952 Male Heterozygous CAUSAL W80 0 354 03-VI14-F18A-947 Male Heterozygous CAUSAL W80 7 355 03-VI14-O18E-925 Female Heterozygous CAUSAL W80 0 358 03-VI14-R01P-970 Male Heterozygous CAUSAL W80 7
p.Thr197del	c.589_591delACC	3	197	Ju,Sm,NMH,HD,NM		Small rearrangement	InF	In frame del	5
UMD_id Sample ID Gender Mutation status Variation class Family ID References 474 03-RE07-S01N-977 Female Heterozygous CAUSAL W60 7 482 03-RE07-G21Y-953 Male Heterozygous CAUSAL W60 7 486 03-RE07-J01C-950 Male Heterozygous CAUSAL W60 9 490 03-RE07-M09C-945 Male Heterozygous CAUSAL W60 9 491 03-RE07-K18I-981 Male Heterozygous CAUSAL W60 9
p.Thr210SerfsX13	c.628_631delACAG	3	210	Ju,Sm,NMH,HD,NM		Small rearrangement	Fr.	Stop at 222	34
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1614 02-BA18-Y22E-964 Male Heterozygous CAUSAL W204 15 58 04-TI19-C09N-980 Female Heterozygous CAUSAL W2066 11 59 04-DA03-B05N-000 Male Heterozygous CAUSAL W2066 11 60 04-DA03-B18A-007 Male Heterozygous CAUSAL W2066 11 61 04-GA04-E12O-983 Female Heterozygous CAUSAL W2066 11 62 04-GA04-L21C-993 Female Heterozygous CAUSAL W2066 11 63 04-GO13-S25V-972 Female Heterozygous CAUSAL W2066 11 64 04-HE18-C01R-962 Female Heterozygous CAUSAL W2066 11 65 04-HE18-A14N-964 Male Heterozygous CAUSAL W2066 11 66 04-HE18-A21R-993 Male Heterozygous CAUSAL W2066 11 67 04-HE18-M01R-965 Female Heterozygous CAUSAL W2066 11 68 04-HE18-J21A-956 Male Heterozygous CAUSAL W2066 11 69 04-LA14-J15S-954 Male Heterozygous CAUSAL W2066 11 70 04-TH05-E19T-977 Female Heterozygous CAUSAL W2066 11 71 04-VI04-E14Z-011 Male Heterozygous CAUSAL W2066 11 475 03-RO25-J05A-971 Male Heterozygous CAUSAL W176 13 476 03-LA18-A14N-947 Female Heterozygous CAUSAL W105 13 477 03-VE18-C05L-978 Female Heterozygous CAUSAL W107 13 478 03-GO13-B05R-971 Male Heterozygous CAUSAL W126 13 485 03-RO25-A07N-962 Female Heterozygous CAUSAL W176 15 495 03-VE18-C08A-954 Female Heterozygous CAUSAL W107 15 499 03-RO25-J05A-939 Male Heterozygous CAUSAL W176 15 502 03-MO09-G05R-954 Male Heterozygous CAUSAL W2089 15 503 03-MO09-M01U-996 Female Heterozygous CAUSAL W2089 15 509 03-MO09-F12A-991 Female Heterozygous CAUSAL W2089 15 512 03-BE01-D01V-983 Male Heterozygous CAUSAL 15 513 03-RO25-N01T-002 Male Heterozygous CAUSAL W176 15 1343 01-CO21-N09C-983 Male Heterozygous CAUSAL W183 13 1406 01-LE16-S01N-969 Female Heterozygous CAUSAL 0 1411 01-MA18-A21D-985 Female Heterozygous CAUSAL 27 1420 01-MA26-O12I-967 Male Heterozygous CAUSAL W2060 0 1448 01-RO07-A18N-974 Male Heterozygous CAUSAL 0 1587 02-HE18-J05A-956 Male Heterozygous CAUSAL W2074 21 1588 02-HE18-B05N-988 Male Heterozygous CAUSAL W2074 21
p.Tyr312ThrfsX56	c.933delC	7	311	NF,NM,RP,FA,HD		Small rearrangement	Fr.	Stop at 367	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 755 03-ME02-N15R-975 Female Heterozygous CAUSAL W1043 0 757 03-ME02-S05B-976 Male Heterozygous CAUSAL W1043 0
p.Thr346SerfsX20	c.1037_1038delCT	7	346	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Fr.	Stop at 365	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 754 03-AO21-Y15U-946 Male Heterozygous CAUSAL W1044 0