The
UMD-MEN1
mutations database
Arg to Lys mutations
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Arg275Lys
c.824G>A
5-6
275
Sm,NM,NMH,FA,HD
Small rearrangement
Ts
G->A
12
UMD_id
Sample ID
Gender
Mutation status
Variation class
Family ID
References
1804
02-FE18-J21L-977
Female
Heterozygous
CAUSAL
W2050
0
93
04-BR21-J15E-956
Female
Heterozygous
CAUSAL
W1148
0
94
04-BR21-E04O-985
Male
Heterozygous
CAUSAL
W1148
0
95
04-BR21-B05N-983
Male
Heterozygous
CAUSAL
W1148
0
96
04-MA18-M09R-949
Female
Heterozygous
CAUSAL
W1148
0
684
03-EM05-J05A-940
Male
Heterozygous
CAUSAL
W131
0
691
03-MA03-A14N-968
Female
Heterozygous
CAUSAL
W1009
0
692
03-GR05-D05L-978
Female
Heterozygous
CAUSAL
W108
0
693
03-VI05-V09C-965
Male
Heterozygous
CAUSAL
W1004
0
695
03-BU09-D15M-948
Female
Heterozygous
CAUSAL
W108
0
1802
02-FE18-A12E-977
Male
Heterozygous
CAUSAL
W2050
0
1803
02-FE18-C08A-948
Female
Heterozygous
CAUSAL
W2050
0