The
UMD-MEN1
mutations database
Met to Deletion mutations
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Met558X
c.1672delA
10
558
Sm,ASK,CH
Small rearrangement
Fr.
Stop at 558
3
UMD_id
Sample ID
Gender
Mutation status
Variation class
Family ID
References
1104
03-MI07-S21Z-961
Female
Heterozygous
CAUSAL
W97
9
1080
03-GA18-S25L-984
Male
Heterozygous
CAUSAL
W97
9
1081
03-GA18-P09E-989
Male
Heterozygous
CAUSAL
W97
9