The UMD-MEN1 mutations database
Lys to Deletion mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Lys120del	c.358_360delAAG	2	120	Sm, NM		Small rearrangement	InF	In frame del	4
UMD_id Sample ID Gender Mutation status Variation class Family ID References 374 03-MA18-C08R-954 Female Heterozygous CAUSAL W1035 3 400 03-GO13-R09C-974 Male Heterozygous CAUSAL W2087 3 414 03-GO13-C05C-950 Female Heterozygous CAUSAL W2087 15 1811 02-GO13-A06O-965 Male Heterozygous CAUSAL W2087 11
p.Lys151AsnfsX28	c.453_454delAT	3	151	Ju, Sm,NM,HD		Small rearrangement	Fr.	Stop at 178	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1511 02-MA18-E12E-984 Female Heterozygous CAUSAL W171 0 1512 02-MA18-S05R-945 Male Heterozygous CAUSAL W171 0 1513 02-MA18-V01L-982 Female Heterozygous CAUSAL W171 0
p.Lys422AsnfsX23	c.1266delA	9	422	Ju,Pem,NM,RP,HD,CH		Small rearrangement	Fr.	Stop at 444	6
UMD_id Sample ID Gender Mutation status Variation class Family ID References 843 03-SC15-J05A-973 Male Heterozygous CAUSAL W51 9 844 03-SC15-G09S-944 Female Heterozygous CAUSAL W51 9 872 03-SO09-M15N-954 Female Heterozygous CAUSAL W51 9 902 03-SO09-C12A-943 Male Heterozygous CAUSAL W51 3 903 03-SO09-J05A-950 Male Heterozygous CAUSAL W51 3 1552 02-SO09-M01U-939 Male Heterozygous CAUSAL W51 3
p.Lys496ArgfsX63	c.1487delA	10	496	Sm3,CH		Small rearrangement	Fr.	Stop at 558	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1204 03-PE18-D09E-000 Male Heterozygous CAUSAL W2031 0 1286 03-PE18-G21I-997 Male Heterozygous CAUSAL W2031 0
p.Lys517AlafsX13	c.1549_1550delAA	10	517	Sm3,CH		Small rearrangement	Fr.	Stop at 529	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1819 02-LA21-J05R-973 Male Heterozygous CAUSAL W2055 0 970 03-MA18-J15E-949 Male Heterozygous CAUSAL W1101 0 1818 02-LA21-G08I-950 Female Heterozygous CAUSAL W2055 0