The UMD-MEN1 mutations database
Arg to Trp mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Arg218Trp	c.652C>T	3	218	Ju,Sm,NMH,HD,NM		Small rearrangement	Ts	C->T	4
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1874 04-PA25-C12E-010 Male Heterozygous LIKELY CAUSAL W2067 0 73 04-GI18-V09O-983 Female Heterozygous LIKELY CAUSAL W2067 0 1940 04-GI18-V01-983 Female UV 0 1971 04-GI18-V09-983 Female LIKELY CAUSAL 0
p.Arg355Trp	c.1063C>T	8	355	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 133 04-LA22-J05A-944 Male Heterozygous UV 15
p.Arg452Trp	c.1354C>T	10	452	Pem,NM,CH		Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Mutation status Variation class Family ID References 169 04-DU16-A09M-943 Female Heterozygous UV 0 170 04-GA18-M01R-951 Female Heterozygous UV 0 1214 03-OK20-M09C-954 Male Heterozygous UV 0