The UMD-CSB mutations database
Arg to Stop mutations

Variation type	Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Arg77X	c.229C>T	2	77			Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 70 UVS1KO Homozygous JAPAN 9
p.Arg453X	c.1357C>T	5	453			Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 43 CS1PV Homozygous ITALY 3 72 25627 Heterozygous - 4
p.Arg652X	c.1954C>T	9	652			Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 15 08STR4 Homozygous U.K. 0
p.Arg683X	c.2047C>T	10	683			Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 1 CS789VI Homozygous U.K. 0
p.Arg735X	c.2203C>T	11	735			Small rearrangement	Ts	C->T	5
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 39 CS823VI Heterozygous FRANCE 0 57 GM10905 Homozygous MEXICO 7 58 CS1TAN Homozygous TURKEY 4 61 GM10903 Homozygous MEXICO 7 71 25627 Heterozygous - 4
p.Arg857X	c.2569C>T	13	857			Small rearrangement	Ts	C->T	3
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 4 CS816VI Heterozygous FRANCE 0 14 08STR1 Heterozygous FRANCE 0 55 CS1AN Heterozygous U.S.A. 6
p.Arg1087X	c.3259C>T	18	1087			Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 5 CS816VI Heterozygous FRANCE 0 19 CS6BI Homozygous U.K. (BENGLASDESH) 0
p.Arg1288X	c.3862C>T	19	1288			Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Disease References 18 CS817VI Homozygous FRANCE (MOROCCO) 0