The UMD-MEN1 mutations database
Large lesions (106 records)

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Met1?	c.1_1833del	2	1	Ju, NM, RP		Large rearrangement Deletion from exon 2 to 10	InF	Stop at 26	67
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1895 03-AR12-P08I-981 Male Heterozygous CAUSAL W2073 0 1483 03-AN03-N09C-948 Male Heterozygous CAUSAL W70 0 1485 03-ME18-P01T-951 Male Heterozygous CAUSAL W129 0 1486 03-GO01-A18M-967 Male Heterozygous CAUSAL W155 0 1489 03-DE15-W09L-987 Male Heterozygous CAUSAL W34 0 1490 03-DE15-M01R-962 Female Heterozygous CAUSAL W34 0 1491 03-DE01-M01R-959 Female Heterozygous CAUSAL W34 0 1492 03-AR12-F18A-975 Male Heterozygous CAUSAL W2073 0 1710 03-DA12-K01R-970 Female Heterozygous CAUSAL W21 0 1711 03-DA12-E13I-002 Female Heterozygous CAUSAL W21 0 1712 03-DE22-C08I-959 Male Heterozygous CAUSAL W21 0 1713 01-WI20-C08A-962 Female Heterozygous CAUSAL W21 0 1714 03-BO21-C08R-953 Female Heterozygous CAUSAL W21 0 1715 03-DE12-J15C-956 Male Heterozygous CAUSAL W21 0 1716 01-CA18-S01R-973 Female Heterozygous CAUSAL W21 0 1717 03-PI17-M01R-959 Female Heterozygous CAUSAL W21 0 1718 01-DE23-S25L-977 Female Heterozygous CAUSAL W21 0 1719 01-BO21-C08R-975 Female Heterozygous CAUSAL W21 0 1720 03-DA12-R15G-953 Male Heterozygous CAUSAL W21 0 1721 03-MA18-M01R-963 Female Heterozygous CAUSAL W21 0 1722 01-BE04-L21C-958 Male Heterozygous CAUSAL W21 0 1723 01-BE04-J01C-990 Male Heterozygous CAUSAL W21 0 1724 01-BE04-Y22E-935 Female Heterozygous CAUSAL W21 0 1725 03-DE22-L09L-931 Female Heterozygous CAUSAL W21 0 1726 03-DA12-D01N-952 Male Heterozygous CAUSAL W21 0 1727 01-BO05-N01T-968 Female Heterozygous CAUSAL W21 0 1728 01-VE18-A14G-980 Female Heterozygous CAUSAL W21 0 1729 01-BO21-L09O-946 Male Heterozygous CAUSAL W21 0 1730 01-BO21-Y22O-957 Male Heterozygous CAUSAL W21 0 1731 01-BO21-Y22E-930 Female Heterozygous CAUSAL W21 0 1732 01-PE03-M01R-952 Female Heterozygous CAUSAL W21 0 1733 01-BO21-H05L-982 Female Heterozygous CAUSAL W21 0 1734 01-CH15-H05L-982 Female Heterozygous CAUSAL W21 0 1735 01-DA12-S01N-979 Female Heterozygous CAUSAL W21 0 1736 01-CH05-S25L-961 Female Heterozygous CAUSAL W21 0 1737 01-DU03-C08A-956 Female Heterozygous CAUSAL W21 0 1738 03-DE22-C08R-967 Male Heterozygous CAUSAL W21 0 1739 01-CO17-R15G-923 Male Heterozygous CAUSAL W21 0 1740 01-CH15-P08I-952 Male Heterozygous CAUSAL W21 0 1741 01-DA12-J05A-946 Male Heterozygous CAUSAL W21 0 1742 01-BO21-S25L-987 Female Heterozygous CAUSAL W21 0 1743 01-DE12-J21L-987 Male Heterozygous CAUSAL W21 0 1744 01-DE12-P18I-980 Female Heterozygous CAUSAL W21 0 1745 01-DE12-S05B-983 Male Heterozygous CAUSAL W21 0 1746 01-DU03-S15P-983 Female Heterozygous CAUSAL W21 0 1747 01-GA16-M01R-962 Female Heterozygous CAUSAL W21 0 1748 01-DE12-N01T-954 Female Heterozygous CAUSAL W21 0 1749 01-CH15-D15M-954 Female Heterozygous CAUSAL W21 0 1750 01-DE12-L01U-985 Female Heterozygous CAUSAL W21 0 1751 01-DE12-R15G-984 Male Heterozygous CAUSAL W21 0 1752 01-BE04-L21C-985 Female Heterozygous CAUSAL W21 0 1753 01-BE04-P01T-959 Male Heterozygous CAUSAL W21 0 1754 01-CH15-N01D-000 Female Heterozygous CAUSAL W21 0 1755 01-CO17-F18A-949 Male Heterozygous CAUSAL W21 0 1756 01-DA12-J05A-957 Male Heterozygous CAUSAL W21 0 1757 03-DA12-O12I-972 Male Heterozygous CAUSAL W21 0 1758 01-DA12-H05L-986 Female Heterozygous CAUSAL W21 0 1759 01-DE22-M09C-937 Female Heterozygous CAUSAL W21 0 1760 01-DE22-A12E-986 Female Heterozygous CAUSAL W21 0 1761 01-JO12-H01R-997 Female Heterozygous CAUSAL W21 0 1762 01-BO13-F18A-955 Female Heterozygous CAUSAL W21 0 1763 01-DA12-L09L-996 Male Heterozygous CAUSAL W21 0 1764 01-DE12-R15M-997 Male Heterozygous CAUSAL W21 0 1765 01-DE22-A14G-998 Female Heterozygous CAUSAL W21 0 1766 01-PE03-F12O-976 Female Heterozygous CAUSAL W21 0 1767 01-BO21-L09L-996 Male Heterozygous CAUSAL W21 0 1768 01-BE04-C09N-990 Female Heterozygous CAUSAL W21 0
p.Met1?	c.1_445del	2	1	Ju, NM, RP		Large rearrangement Deletion from exon 2 to 2	Fr.	Stop at 36	22
UMD_id Sample ID Gender Mutation status Variation class Family ID References 227 04-SA14-A14N-933 Female Heterozygous CAUSAL W72 0 228 04-SA14-G05R-953 Female Heterozygous CAUSAL W72 0 1312 01-L01P-M01T-002 Male Heterozygous CAUSAL W2041 0 1313 01-LO16-D05N-949 Female Heterozygous CAUSAL W2041 0 1314 01-LO16-S01N-974 Female Heterozygous CAUSAL W2041 0 1427 01-BE12-A14T-993 Male Heterozygous CAUSAL W52 0 1428 01-BE12-A21R-997 Female Heterozygous CAUSAL W52 0 1429 01-BE12-E22A-999 Female Heterozygous CAUSAL W52 0 1430 01-PL05-O03E-998 Female Heterozygous CAUSAL W52 0 1431 01-PL05-C12E-001 Female Heterozygous CAUSAL W52 0 1432 01-PL05-N09C-949 Female Heterozygous CAUSAL W52 0 1433 01-PA19-Y22A-976 Female Heterozygous CAUSAL W52 0 1434 01-PL05-Y22O-973 Male Heterozygous CAUSAL W52 0 1435 01-LE12-E12I-950 Female Heterozygous CAUSAL W52 0 1436 01-LE12-E13I-980 Female Heterozygous CAUSAL W52 0 1437 01-LE12-H05L-978 Female Heterozygous CAUSAL W52 0 1438 01-PL05-P01S-967 Female Heterozygous CAUSAL W52 0 1480 03-JO21-E18I-958 Male Heterozygous CAUSAL W1058 0 1481 03-JO21-Y22O-936 Female Heterozygous CAUSAL W1058 0 1499 03-BE12-F18E-968 Female Heterozygous CAUSAL W52 0 1500 03-LE12-M09C-938 Male Heterozygous CAUSAL W52 0 1501 03-LE12-H12B-946 Male Heterozygous CAUSAL W52 0
p.Met1?	c.1_912del	2	1	Ju, NM, RP		Large rearrangement Deletion from exon 2 to 6	InF	In frame del	6
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1493 03-FE12-C01R-987 Female Heterozygous CAUSAL W280 0 1494 03-DE19-C08R-941 Female Heterozygous CAUSAL W280 0 1495 03-FE12-M01N-965 Male Heterozygous CAUSAL W280 0 1496 03-FE12-A14A-986 Female Heterozygous CAUSAL W280 0 1604 02-FE12-D21A-969 Male Heterozygous CAUSAL W2021 0 1605 02-FE12-L01E-999 Female Heterozygous CAUSAL W2021 0
p.Leu117ArgfsX11	c.349_350ins26	2	117	Sm, NM		Large rearrangement	Fr.	Stop at 127	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1862 04-MU12-C01P-015 Female Heterozygous CAUSAL W227 0 34 04-DO19-C09N-989 Female Heterozygous CAUSAL W227 0
p.Thr150HisfsX12	c.446_1185del	2-3	149	Ju, Sm,NM,HD		Large rearrangement Deletion from exon 3 to 8	Fr.	Stop at 161	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1498 03-AT18-H05L-959 Female Heterozygous CAUSAL 0
p.Gly149fsX49	c.446_1833del	2-3	149	Ju, Sm,NM,HD		Large rearrangement Deletion from exon 3 to 10	Fr.	Stop at 197	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1482 03-BA21-F01B-Y22O-936 Female Heterozygous CAUSAL W24 0
p.Thr150HisfsX11	c.446_912del	2-3	149	Ju, Sm,NM,HD		Large rearrangement Deletion from exon 3 to 6	Fr.	Stop at 160	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1487 03-SE18-M01R-954 Female Heterozygous CAUSAL W2047 0 1488 03-SE18-O12I-978 Male Heterozygous CAUSAL W2047 0
p.Ser219fsX4	c.655_1833del	4	219	Ju,Sm,NM,NMH,FA,HD		Large rearrangement Deletion from exon 4 to 10	InF	Stop at 222	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1484 03-ZI20-S08A-951 Female Heterozygous CAUSAL W2046 0 1497 03-ZI20-A21R-991 Female Heterozygous CAUSAL W2046 0
p.Val451fsX67	c.1351_1833del	10	451	Pem,NM,CH		Large rearrangement Deletion from exon 10 to 10	InF	Stop at 517	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1581 02-SA21-S05R-953 Male Heterozygous CAUSAL 0
p.Arg516AlafsX15	c.1545_1546insg	10	516	Sm3,CH		Large rearrangement	Fr.	Stop at 530	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1007 03-MA18-P09E-958 Male Heterozygous CAUSAL W193 21 1116 03-MA21-M01R-935 Female Heterozygous CAUSAL W193 21