The UMD-MEN1 mutations database
His to Tyr mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.His139Tyr	c.415C>T	2	139	Ju, Sm, NM		Small rearrangement	Ts	C->T	4
UMD_id Sample ID Gender Mutation status Variation class Family ID References 36 04-LE22-C01R-969 Female Heterozygous UV w2052 2 37 04-MA09-C01N-975 Female Heterozygous UV w2052 2 383 03-LE22-J15R-992 Male Heterozygous UV W2052 2 384 03-LE22-V09N-004 Male Heterozygous UV W2052 2
p.His317Tyr	c.949C>T	7	317	NF,NM,RP,FA,HD		Small rearrangement	Ts	C->T	9
UMD_id Sample ID Gender Mutation status Variation class Family ID References 762 03-FU08-L21C-968 Male Heterozygous LIKELY CAUSAL W2013 9 119 04-GU20-N15E-992 Female Heterozygous LIKELY CAUSAL W2015 14 120 04-GU20-C08R-958 Male Heterozygous LIKELY CAUSAL W2015 14 717 03-SE12-J05A-959 Male Heterozygous LIKELY CAUSAL W1022 9 719 03-SC08-A12B-933 Male Heterozygous LIKELY CAUSAL W156 9 720 03-GA02-M01R-987 Female Heterozygous LIKELY CAUSAL W156 9 721 03-GA02-A14A-985 Female Heterozygous LIKELY CAUSAL W156 9 722 03-GA02-B18I-960 Female Heterozygous LIKELY CAUSAL W156 9 759 03-FU08-C01M-005 Female Heterozygous LIKELY CAUSAL W2013 9