The
UMD-MEN1
mutations database
Thr to Pro mutations
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Thr251Pro
c.751A>C
4
251
Sm,NM,NMH,FA,HD
Small rearrangement
Tv
A->C
1
UMD_id
Sample ID
Gender
Mutation status
Variation class
Family ID
References
1899
03-GRE-001-000
Unknown
UV
0
p.Thr311Pro
c.931A>C
7
311
NF,NM,RP,FA,HD
Small rearrangement
Tv
A->C
5
UMD_id
Sample ID
Gender
Mutation status
Variation class
Family ID
References
731
03-AU18-A21R-983
Male
Heterozygous
LIKELY CAUSAL
W109
3
732
03-GU09-J21L-978
Male
Heterozygous
LIKELY CAUSAL
W109
3
733
03-PI03-N09C-956
Female
Heterozygous
LIKELY CAUSAL
W109
3
745
03-AU18-B05R-948
Male
Heterozygous
LIKELY CAUSAL
W109
3
1586
02-MA18-M01D-926
Female
Heterozygous
LIKELY CAUSAL
3