The
UMD-MEN1
mutations database
Ser to Asn mutations
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Ser555Asn
c.1664G>A
10
555
Sm3,CH
Small rearrangement
Ts
G->A
4
UMD_id
Sample ID
Gender
Mutation status
Variation class
Family ID
References
1165
03-RI16-F18A-937
Male
Heterozygous
LIKELY CAUSAL
W2
9
1030
03-RI16-S20E-978
Female
Heterozygous
LIKELY CAUSAL
W2
9
1031
03-RI16-V01L-969
Female
Heterozygous
LIKELY CAUSAL
W2
9
1032
03-RI16-D09D-968
Male
Heterozygous
LIKELY CAUSAL
W2
9