The UMD-MEN1 mutations database
Leu to Leu mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Leu41Leu	c.121C>T	2	41	Sm, NM		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1935 04-CO19-M01-945 Female NEUTRAL 0
p.Leu175Leu	c.525C>T	3	175	Ju,Sm,NMH,HD,NM		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1859 03-ISR-ELK-000 Unknown Heterozygous LIKELY NEUTRAL 0
p.Leu254Leu	c.762G>A	4	254	Sm,NM,NMH,FA,HD		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 619 03-ST18-H05L-937 Female Heterozygous LIKELY NEUTRAL 0
p.Leu270Leu	c.810G>C	5	270	Sm,NM,NMH,FA,HD		Small rearrangement	Tv	G->C	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1943 04-CH01-D01N-004 Male UV 0
p.Leu301Leu	c.903C>T	6	301	Pem,NM,RP,NMH,FA,HD		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1945 04-BL01-F18-981 Male UV 0
p.Leu376Leu	c.1128G>A	8	376	Ju,NF,Pem,NM,RP,FA,mS,HD		Small rearrangement	Ts	G->A	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1925 04-LA06-C05-958 Female UV 0
p.Leu432Leu	c.1296G>A	9	432	Pem,NM,RP,HD,CH		Small rearrangement	Ts	G->A	4
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1886 04-BO21-S15P-955 Female Heterozygous LIKELY NEUTRAL 0 1505 02-CO08-R05B-985 Female Heterozygous LIKELY NEUTRAL 0 1904 04-AY01-S01R-986 Female LIKELY NEUTRAL 0 1885 04-MO14-M01R-959 Female Heterozygous LIKELY NEUTRAL 0
p.Leu432Leu	c.1296G>C	9	432	Pem,NM,RP,HD,CH		Small rearrangement	Tv	G->C	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1636 02-GO14-M01N-971 Female Heterozygous LIKELY NEUTRAL 0 1686 02-MO21-L09L-980 Female Heterozygous LIKELY NEUTRAL 0