The
UMD-MEN1
mutations database
Asp to His mutations
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Asp231His
c.691G>C
4
231
Ju,Sm,NM,NMH,FA,HD
Small rearrangement
Tv
G->C
1
UMD_id
Sample ID
Gender
Mutation status
Variation class
Family ID
References
87
04-CA04-J05A-951
Male
Heterozygous
UV
0
p.Asp357His
c.1069G>C
8
357
Ju,NF,Pem,NM,RP,FA,HD
Small rearrangement
Tv
G->C
4
UMD_id
Sample ID
Gender
Mutation status
Variation class
Family ID
References
1409
01-LI05-F01B-961
Female
Heterozygous
LIKELY CAUSAL
9
795
03-LA22-A04R-984
Male
Heterozygous
LIKELY CAUSAL
W144
9
796
03-LA22-A21R-979
Female
Heterozygous
LIKELY CAUSAL
W144
9
797
03-LA22-J15E-952
Male
Heterozygous
LIKELY CAUSAL
W144
9