The UMD-SKIV2L mutations database
Record ID: 29

Mutation description

Variation name (cDNA level)	Variation name (protein level)	Variation status	Variation class
c.3187C>T	p.Arg1063X	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
		Yes, coding strand	Yes

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
LEE40095	Proband	Male				CHINA

Phenotypic group	Disease

Reference

Reference ID	PubMed ID	Reference
6	27050310	Lee WS, Teo KM, Ng RT, Chong SY, Kee BP, Chua KH. Novel mutations in SKIV2L and TTC37 genes in Malaysian children with trichohepatoenteric syndrome. Gene. 2016 Jul 15;586(1):1-6. doi: 10.1016/j.gene.2016.03.049. Epub 2016 Apr 12. PubMed PMID: 27050310.