The UMD-CSB mutations database
Record ID: 55

Mutation description

Variation name (cDNA level)	Variation name (protein level)	Variation status	Variation class
c.2569C>T	p.Arg857X	Heterozygous	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
		No	Yes

Mutation impact

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

Patient and sample data

Sample ID	Patient status	Gender	Transmission	Age of onset	Age of death	Geographic origin
CS1AN	Proband					U.S.A.

Phenotypic group	Disease

Clinical data

Symptom

Reference

Reference ID	PubMed ID	Reference
6	1339317	Troelstra C, van Gool A, de Wit J, Vermeulen W, Bootsma D, Hoeijmakers JH. ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes. Cell 1992;71(6):939-53.