The
UMD-MEN1
mutations database
Glu to Asp mutations
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Glu109Asp
c.327A>T
2
109
Sm, NM
Small rearrangement
Tv
A->T
1
UMD_id
Sample ID
Gender
Mutation status
Variation class
Family ID
References
1616
02-RO07-P01S-954
Male
Heterozygous
UV
0
p.Glu316Asp
c.948A>T
7
316
NF,NM,RP,FA,HD
Small rearrangement
Tv
A->T
5
UMD_id
Sample ID
Gender
Mutation status
Variation class
Family ID
References
114
04-FO21-R15M-984
Male
Heterozygous
UV
W1094
0
115
04-OT08-G21I-989
Male
Heterozygous
UV
W2098
0
116
04-OT08-J15S-961
Female
Heterozygous
UV
W2098
0
117
04-OT08-O03E-995
Female
Heterozygous
UV
W2098
0
118
04-OT08-B05N-996
Male
Heterozygous
UV
W2098
0