The UMD-MEN1 mutations database
Ala to Val mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Ala164Val	c.491C>T	3	164	Ju,Sm,NMH,HD,NM		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1667 02-MA14-B05N-951 Male Heterozygous LIKELY CAUSAL 0
p.Ala242Val	c.725C>T	4	242	Ju,Sm,NM,NMH,FA,HD		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1960 01-MO14-D01-985 Female UV 0
p.Ala325Val	c.974C>T	7	325	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 1981 01-RA07-N09-984 Male LIKELY CAUSAL W2022-13 0
p.Ala385Val	c.1154C>T	8	385	Ju,Pem,NM,RP,FA,mS,HD		Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 801 03-MO21-C01R-979 Female Heterozygous UV W133 12 803 03-MO21-C15L-951 Female Heterozygous UV W133 12