The UMD-CSB mutations database
Record ID: 60

Mutation description

Variation name (cDNA level)	Variation name (protein level)	Variation status	Variation class
c.1280dup	p.Ser429LysfsX7	Homozygous	Mutation

wt codon	wt aa	mutant codon	mutant aa	mutational event	mutation type
TTC	Phe	ins1c	Fs.	Stop at 435	Fr.

Structure	Key Residue (HCD)	Pyrimidin doublet	CpG

Mutation impact

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

Patient and sample data

Sample ID	Patient status	Gender	Transmission	Age of onset	Age of death	Geographic origin
CS10LO	Proband

Phenotypic group	Disease

Clinical data

Symptom

Reference

Reference ID	PubMed ID	Reference
4	9443879	Mallery DL, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR. Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. Am J Hum Genet 1998;62(1):77-85.