The
UMD-MEN1
mutations database
Arg to Ser mutations
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Arg21Ser
c.61C>A
2
21
Ju, NM, RP
Small rearrangement
Tv
C->A
1
UMD_id
Sample ID
Gender
Mutation status
Variation class
Family ID
References
1858
02-SR09-S21G-981
Female
Heterozygous
LIKELY NEUTRAL
0
p.Arg275Ser
c.825G>C
5-6
275
Sm,NM,NMH,FA,HD
Small rearrangement
Tv
G->C
5
UMD_id
Sample ID
Gender
Mutation status
Variation class
Family ID
References
101
04-GA18-C12A-956
Male
Heterozygous
LIKELY CAUSAL
W2095
0
102
04-GA18-L01U-977
Male
Heterozygous
LIKELY CAUSAL
W2095
0
103
04-GA18-C05L-981
Female
Heterozygous
LIKELY CAUSAL
W2095
0
104
04-RE02-G05R-959
Male
Heterozygous
LIKELY CAUSAL
W2095
0
105
04-RE02-D05N-964
Male
Heterozygous
LIKELY CAUSAL
W2095
0