The
UMD-MEN1
mutations database
Leu to Arg mutations
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Leu13Arg
c.38T>G
2
13
Ju, NM, RP
Small rearrangement
Tv
T->G
4
UMD_id
Sample ID
Gender
Mutation status
Variation class
Family ID
References
1366
01-ET09-A14N-945
Female
Heterozygous
LIKELY CAUSAL
0
256
03-BL15-S01N-972
Female
Heterozygous
LIKELY CAUSAL
W1040
0
380
03-CO18-J05S-988
Female
Heterozygous
LIKELY CAUSAL
W2002
0
393
03-CO18-M01R-964
Male
Heterozygous
LIKELY CAUSAL
W2002
0
p.Leu22Arg
c.65T>G
2
22
Ju, NM, RP
Small rearrangement
Tv
T->G
1
UMD_id
Sample ID
Gender
Mutation status
Variation class
Family ID
References
1
04-AU07-F01N-979
Female
Heterozygous
LIKELY CAUSAL
2