The UMD-CSB mutations database
Record ID: 69

Mutation description

Variation name (cDNA level)	Variation name (protein level)	Variation status	Variation class
c.229_232delCGAC	p.Arg77IlefsX6	Homozygous	Mutation

wt codon	wt aa	mutant codon	mutant aa	mutational event	mutation type
CGA	Arg	del4a	Fs.	Stop at 82	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
KPSX6	Proband					JAPAN

Phenotypic group	Disease

Clinical data

Symptom

Reference

Reference ID	PubMed ID	Reference
8	18185538	Hashimoto S, Suga T, Kudo E, Ihn H, Uchino M, Tateishi S. Adult-onset neurological degeneration in a patient with Cockayne syndrome and a null mutation in the CSB gene. J Invest Dermatol 2008;128(6):1597-9.