The UMD-MEN1 mutations database
Ala to Asp mutations

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Ala164Asp	c.491C>A	3	164	Ju,Sm,NMH,HD,NM		Small rearrangement	Tv	C->A	1
UMD_id Sample ID Gender Mutation status Variation class Family ID References 517 03-DE01-V05R-987 Female Heterozygous LIKELY CAUSAL 9
p.Ala337Asp	c.1010C>A	7	337	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Tv	C->A	7
UMD_id Sample ID Gender Mutation status Variation class Family ID References 718 03-PL01-H05L-965 Female Heterozygous LIKELY CAUSAL W29 7 725 03-BE18-C15R-959 Female Heterozygous LIKELY CAUSAL W29 7 742 03-BE18-S05B-988 Male Heterozygous LIKELY CAUSAL W29 7 756 03-RO12-A14N-942 Female Heterozygous LIKELY CAUSAL W29 21 1557 02-BE18-M09C-935 Female Heterozygous LIKELY CAUSAL W29 21 1558 02-RO25-S05B-988 Male Heterozygous LIKELY CAUSAL W29 21 1560 02-PL01-N09C-994 Male Heterozygous LIKELY CAUSAL W29 21
p.Ala345Asp	c.1034C>A	7	345	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Tv	C->A	2
UMD_id Sample ID Gender Mutation status Variation class Family ID References 1924 04-CA14-D01-965 Male UV 0 125 04-CA14-D01N-965 Male Heterozygous UV 0
p.Ala368Asp	c.1103C>A	8	368	Ju,NF,Pem,NM,RP,FA,HD		Small rearrangement	Tv	C->A	6
UMD_id Sample ID Gender Mutation status Variation class Family ID References 792 03-IV01-J05A-950 Male Heterozygous LIKELY CAUSAL W147 7 794 03-FA02-A12E-992 Male Heterozygous LIKELY CAUSAL W147 7 799 03-FA02-J05A-949 Male Heterozygous LIKELY CAUSAL W147 7 802 03-IV01-A14N-926 Female Heterozygous LIKELY CAUSAL W147 7 808 03-IV01-M01Y-988 Female Heterozygous LIKELY CAUSAL W147 7 809 03-IV01-L01U-985 Female Heterozygous LIKELY CAUSAL W147 7