The UMD-MEN1 mutations database
Ser to Insertion mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Asp70ProfsX51	c.191_195dup	2	66	Sm, NM		Small rearrangement	Fr.	Stop at 120	11
UMD_id Sample ID Gender Mutation status Variation class Family ID References 260 03-SI13-L21C--981 Male Heterozygous CAUSAL W248 15 265 03-SI22-N01D-956 Female Heterozygous CAUSAL W220 7 266 03-BE12-E12I-948 Female Heterozygous CAUSAL W220 15 271 03-BE12-F18A-977 Male Heterozygous CAUSAL W220 15 268 03-BE12-C01R-973 Female Heterozygous CAUSAL W220 15 369 03-SO21-J15S-947 Male Heterozygous CAUSAL W39 15 372 03-SO21-F18A-973 Male Heterozygous CAUSAL W39 15 386 03-GI18-M01R-994 Female Heterozygous CAUSAL W2004 15 413 03-PE25-M01R-938 Female Heterozygous CAUSAL 15 421 03-BO14-E12I-948 Female Heterozygous CAUSAL W220 0 428 03-GI18-C05C-962 Female Heterozygous CAUSAL W2004 15
p.Pro65_Ser66insSerPro	c.196_201dup	2	66	Sm, NM		Small rearrangement	Fr.	In frame ins	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 254 03-MA12-Y01N-973 Male Heterozygous LIKELY CAUSAL W256 0 255 03-MA12-J05A-946 Male Heterozygous LIKELY CAUSAL W256 0 378 03-MA12-S23A-007 Female Heterozygous LIKELY CAUSAL W256 0
p.Ile85TyrfsX32	c.252dup	2	84	Sm, NM		Small rearrangement	Fr.	Stop at 116	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1403 01-LA14-B05R-957 Male Heterozygous CAUSAL W1098 0
p.Ser84delinsSerIle	c.252_254dup	2	84	Sm, NM		Small rearrangement	Fr.	In frame ins	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1954 04-BA18-M01R-975 Female UV 0
p.Tyr106ProfsX15	c.310_314dup	2	104	Sm, NM		Small rearrangement	Fr.	Stop at 120	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 377 03-LE02-A14N-949 Female Heterozygous CAUSAL W149 0
p.Ser130ArgfsX50	c.389dup	2	130	Sm, NM		Small rearrangement	Fr.	Stop at 179	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 376 03-MA09-C12A-951 Male Heterozygous CAUSAL W139 0 425 03-MA09-A07N-981 Female Heterozygous CAUSAL W139 0
p.Glu179X	c.534dup	3	178	Ju,Sm,NMH,HD,NM		Small rearrangement	Fr.	Stop at 179	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 459 03-DI18-S01N-961 Female Heterozygous CAUSAL W203 0 1394 01-JA19-N09C-943 Female Heterozygous CAUSAL W203 0
p.Ile247HisfsX2	c.737dup	4	246	Sm,NM,NMH,FA,HD		Small rearrangement	Fr.	Stop at 248	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 88 04-DE22-S01N-985 Female Heterozygous CAUSAL W1089 0