The UMD-MEN1 mutations database
His to Arg mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.His46Arg	c.137A>G	2	46	Sm, NM		Small rearrangement	Ts	A->G	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1863 04-LA06-V05R-979 Female Heterozygous UV 0
p.His317Arg	c.950A>G	7	317	NF,NM,RP,FA,HD		Small rearrangement	Ts	A->G	7
UMD_id Sample ID Gender Mutation status Variation class Family ID References 724 03-PA20-P01T-963 Female Heterozygous LIKELY CAUSAL W127 7 728 03-SA14-G21I-978 Male Heterozygous LIKELY CAUSAL W127 7 729 03-SA14-A12A-952 Male Heterozygous LIKELY CAUSAL W127 7 730 03-RU06-A14N-958 Female Heterozygous LIKELY CAUSAL W127 7 737 03-RU06-D25L-992 Male Heterozygous LIKELY CAUSAL W127 9 738 03-GE18-T08I-966 Male Heterozygous LIKELY CAUSAL W127 9 769 03-GE18-P01T-963 Female Heterozygous LIKELY CAUSAL W127 12