The UMD-CSB mutations database
Record ID: 43

Mutation description

Variation name (cDNA level)	Variation name (protein level)	Variation status	Variation class
c.1357C>T	p.Arg453X	Homozygous	Mutation

wt codon	wt aa	mutant codon	mutant aa	mutational event	mutation type
CGA	Arg	TGA	Stop	C->T	Ts

Structure	Key Residue (HCD)	Pyrimidin doublet	CpG
		Yes, coding strand	Yes

Mutation impact

At the mRNA level	On restriction map
	New restriction site(s): Dde I Lost restriction site(s): none

Patient and sample data

Sample ID	Patient status	Gender	Transmission	Age of onset	Age of death	Geographic origin
CS1PV	Proband					ITALY

Phenotypic group	Disease

Clinical data

Symptom

Reference

Reference ID	PubMed ID	Reference
3	10196384	Colella S, Nardo T, Mallery D, Borrone C, Ricci R, Ruffa G, Lehmann AR, Stefanini M. Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivity. Hum Mol Genet 1999;8(5):935-41.