The UMD-MEN1 mutations database
Ala to Pro mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Ala49Pro	c.145G>C	2	49	Sm, NM		Small rearrangement	Tv	G->C	9
UMD_id Sample ID Gender Mutation status Variation class Family ID References 284 03-LE02-O12I-960 Male Heterozygous CAUSAL W43 0 285 03-AN17-J01C-934 Female Heterozygous CAUSAL W43 0 332 03--LE02-F18A-959 Male Heterozygous CAUSAL W43 0 333 03-LE02-B18I-935 Female Heterozygous CAUSAL W43 0 395 03-LE02-T08I-987 Male Heterozygous CAUSAL W43 0 399 03-CA22-S20E-967 Male Heterozygous CAUSAL W43 0 401 03-AN17-A12E-978 Male Heterozygous CAUSAL W43 0 1624 02-LE02-A21R-985 Female Heterozygous CAUSAL W43 0 1625 02-LE02-A14A-989 Female Heterozygous CAUSAL W43 0
p.Ala176Pro	c.526G>C	3	176	Ju,Sm,NMH,HD,NM		Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1288 01-AL01-J05R-969 Male Heterozygous UV 2
p.Ala411Pro	c.1231G>C	9	411	Ju,Pem,NM,RP,HD,CH		Small rearrangement	Tv	G->C	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1685 02-BO21-B12O-983 Female Heterozygous LIKELY CAUSAL 29 822 03-FO12-M01R-961 Female Heterozygous LIKELY CAUSAL W1093 29
p.Ala523Pro	c.1567G>C	10	523	Sm3,CH		Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1594 02-LI14-M01R-962 Male Heterozygous UV 0