The
UMD-MEN1
mutations database
Arg to Pro mutations
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Arg314Pro
c.941G>C
7
314
NF,NM,RP,FA,HD
Small rearrangement
Tv
G->C
13
UMD_id
Sample ID
Gender
Mutation status
Variation class
Family ID
References
1881
04-CA22-E12S-976
Female
Heterozygous
CAUSAL
W85
7
110
03-BL01-K01T-980
Female
Heterozygous
CAUSAL
W85
7
112
04-BL01-F18E-988
Male
Heterozygous
CAUSAL
W85
7
734
04-BL01-V01N-984
Male
Heterozygous
CAUSAL
W85
7
736
03-BL01-F18E-988
Male
Heterozygous
CAUSAL
W85
7
739
03-CA22-S15P-978
Female
Heterozygous
CAUSAL
W85
7
740
03-CA22-M01T-993
Female
Heterozygous
CAUSAL
W85
7
741
03-CA22-C12A-980
Female
Heterozygous
CAUSAL
W85
7
746
03-CA22-C08R-953
Male
Heterozygous
CAUSAL
W85
9
747
03-DI22-L09S-951
Female
Heterozygous
CAUSAL
W85
7
748
03-CA22-P01T-961
Male
Heterozygous
CAUSAL
W85
7
753
03-CA22-R05M-956
Male
Heterozygous
CAUSAL
W85
7
766
03-AT07-C08A-005
Female
Heterozygous
CAUSAL
W85
7