The UMD-MEN1 mutations database
Phe to Deletion mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Phe23LeufsX96	c.69delT	2	23	Ju, NM, RP		Small rearrangement	Fr.	Stop at 118	6
UMD_id Sample ID Gender Mutation status Variation class Family ID References 3 04-MA12-B18I-945 Female Heterozygous CAUSAL W19 3 4 04-MA12-J05A-973 Male Heterozygous CAUSAL W19 3 293 03-GE18-S25L-971 Female Heterozygous CAUSAL W19 3 298 03-BR09-L09L-951 Female Heterozygous CAUSAL W19 9 299 03-ME09-S15N-944 Female Heterozygous CAUSAL W19 9 373 03-AL10-M15N-948 Female Heterozygous CAUSAL W19 3
p.Phe134LeufsX51	c.402delC	2	134	Sm, NM		Small rearrangement	Fr.	Stop at 184	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 35 04-SN25-B05N-977 Male Heterozygous CAUSAL 2
p.Phe186_Gly187del	c.556_561del	3	186	Ju,Sm,NMH,HD,NM		Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 505 03-CO03-N01T-969 Female Heterozygous CAUSAL 0
p.Phe439LeufsX5	c.1317_1320delTCTT	9	439	Pem,NM,RP,HD,CH		Small rearrangement	Fr.	Stop at 443	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 898 03-TA12-C12A-937 Male Heterozygous CAUSAL W1 3 899 03-TA12-M09C-960 Male Heterozygous CAUSAL W1 3 904 03-BE18-R15L-933 Female Heterozygous CAUSAL W1 7
p.Phe447GlyfsX80	c.1339_1349del	9	447	Pem,NM,RP,HD,CH		Small rearrangement	Fr.	Stop at 526	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 820 03-MA19-G09U-934 Female Heterozygous CAUSAL W1080 3 873 03-RO19-J05A-969 Male Heterozygous CAUSAL W53 3 878 03-FR01-E13M-931 Female Heterozygous CAUSAL W53 3
p.Phe553SerfsX6	c.1658delT	10	553	Sm3,CH		Small rearrangement	Fr.	Stop at 558	16
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1357 01-DE19-C15R-000 Female Heterozygous CAUSAL W50 33 215 04-DE19-D09D-962 Male Heterozygous CAUSAL W50 7 216 04-DE19-C01T-955 Female Heterozygous CAUSAL W50 7 1085 03-DE19-D05N-963 Male Heterozygous CAUSAL W50 7 1124 03-DE19-A14D-927 Female Heterozygous CAUSAL W50 7 1127 03-DE19-C01T-955 Female Heterozygous CAUSAL W50 3 1287 01-AG01-N01T-960 Female Heterozygous CAUSAL 14 1348 01-LE10-H21G-006 Male Heterozygous CAUSAL W50 33 1349 01-LE10-A07A-004 Female Heterozygous CAUSAL W50 33 1350 01-LE10-A21R-985 Female Heterozygous CAUSAL W50 33 1351 01-VA14-M01T-002 Male Heterozygous CAUSAL W50 33 1352 01-VA14-F18E-000 Male Heterozygous CAUSAL W50 33 1353 01-DE19-S20E-972 Male Heterozygous CAUSAL W50 33 1354 01-DE19-F18E-973 Male Heterozygous CAUSAL W50 33 1355 01-DE19-S05B-978 Male Heterozygous CAUSAL W50 33 1356 03-DE19-A21R-998 Female Heterozygous CAUSAL W50 33