The UMD-MEN1 mutations database
Leu to Pro mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Leu22Pro	c.65T>C	2	22	Ju, NM, RP		Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 2 04-CH01-C08R-970 Male Heterozygous LIKELY CAUSAL 0
p.Leu27Pro	c.80T>C	2	27	Ju, NM, RP		Small rearrangement	Ts	T->C	7
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1865 04-BE18-L09S-952 Female Heterozygous CAUSAL W2062 0 6 04-LA21-P01U-954 Male Heterozygous CAUSAL W2062 0 7 04-LA21-N09C-986 Male Heterozygous CAUSAL W2062 0 8 04-LA21-A21D-978 Female Heterozygous CAUSAL W2062 0 348 03-DE12-G08I-952 Female Heterozygous CAUSAL W1034 0 349 03-BE03-M09C-954 Male Heterozygous CAUSAL W1034 0 404 03-BE03-S20E-980 Female Heterozygous CAUSAL W1034 0
p.Leu48Pro	c.143T>C	2	48	Sm, NM		Small rearrangement	Ts	T->C	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 244 03-PE19-J15H-975 Male Heterozygous LIKELY CAUSAL W1081 0 245 03-PE19-D05N-939 Female Heterozygous LIKELY CAUSAL W1081 0 246 03-PE19-P18I-987 Female Heterozygous LIKELY CAUSAL W1081 0
p.Leu143Pro	c.428T>C	2	143	Ju, Sm, NM		Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 257 03-MA21-C12A-951 Female Heterozygous LIKELY CAUSAL W1039 0
p.Leu175Pro	c.524T>C	3	175	Ju,Sm,NMH,HD,NM		Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1928 01-PR01-P01-978 Female LIKELY CAUSAL 0
p.Leu221Pro	c.662T>C	4	221	Ju,Sm,NM,NMH,FA,HD		Small rearrangement	Ts	T->C	5
UMD_id Sample ID Gender Mutation status Variation class Family ID References 613 03-ST21-E13M-984 Male Heterozygous UV W272 0 614 03-ST21-D15N-979 Female Heterozygous UV W272 0 616 03-ST21-J01C-943 Male Heterozygous UV W272 0 617 03-ST21-C01R-976 Female Heterozygous UV W272 0 1580 02-GU05-S15P-961 Female Heterozygous UV 0
p.Leu223Pro	c.668T>C	4	223	Ju,Sm,NM,NMH,FA,HD		Small rearrangement	Ts	T->C	13
UMD_id Sample ID Gender Mutation status Variation class Family ID References 86 04-BI12-P01T-981 Female Heterozygous CAUSAL W249 7 563 03-BI12-J05A-950 Male Heterozygous CAUSAL W249 7 566 03-BR01-V05R-XXX Female Heterozygous CAUSAL W173 7 567 03-CH01-S01N-991 Female Heterozygous CAUSAL W58 7 571 03-BR01-J01C-950 Female Heterozygous CAUSAL W173 7 572 03-PH09-S09M-940 Female Heterozygous CAUSAL W100 7 574 03-MA07-E13I-944 Female Heterozygous CAUSAL W100 7 578 03-BE25-R05N-938 Male Heterozygous CAUSAL W100 7 579 03-BE25-D09D-969 Male Heterozygous CAUSAL W100 7 592 03-CH01-H08N-953 Male Heterozygous CAUSAL W58 7 601 03-BE25-F12O-945 Male Heterozygous CAUSAL W100 7 1550 02-AI01-R01C-983 Male Heterozygous CAUSAL W58 7 1589 02-AI01-F01R-978 Male Heterozygous CAUSAL W58 7
p.Leu413Pro	c.1238T>C	9	413	Ju,Pem,NM,RP,HD,CH		Small rearrangement	Ts	T->C	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1315 01-BO21-E19T-999 Male Heterozygous CAUSAL W2042 34 1316 01-BO21-E12O-000 Female Heterozygous CAUSAL W2042 34 1317 01-BO21-P08I-970 Male Heterozygous CAUSAL W2042 34
p.Leu551Pro	c.1652T>C	10	551	Sm3,CH		Small rearrangement	Ts	T->C	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1606 02-FL15-A14N-935 Female Heterozygous LIKELY CAUSAL W2051 0