The UMD-FBN1 mutations database
Record ID: 2843

Mutation description

Variation name (cDNA level)	Variation name (protein level)	Variation status	Variation class
c.1868G>T	p.Cys623Phe	Heterozygous	Mutation

wt codon	wt aa	mutant codon	mutant aa	mutational event	mutation type
TGC	Cys	TTC	Phe	G->T	Tv

Structure	Key Residue (HCD)	Pyrimidin doublet	CpG
cb EGF-like #06	Disulfide bonds 623-637 (C2)	No	No

Mutation impact

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

Conservation (0-1)	SIFT (0-1)	UMD-predictor (0-100)
0.83	0.00 (pathogenous)	100 (Pathogenous)

Patient and sample data

Sample ID	Patient status	Gender	Transmission	Age of onset	Age of death	Geographic origin
USA09FAR F0004 I01	Proband	Male	de novo			U.S.A.

Phenotypic group	Disease
NA	MFS

Clinical data

Symptom	Severity	Age
		33
C-Asc. aortic dilatation		33
CNS-Lumbosacral dural ectasia		33
O-Ectopia lentis	bilateral	33
S-High arched palate		33
S-Pectus excavatum moderate (m)(1)		33
S-Reduced US/LS ratio <0.87 (M)		33
SI-Significant striae atrophicae (m)(1)	shoulder	33
SI-Significant striae atrophicae (m)(1)	flank	33
SI-Significant striae atrophicae (m)(1)	hip	33

Reference

Reference ID	PubMed ID	Reference
210	11251996	Toudjarska I, Kilpatrick MW, Lembessis P, Carra S, Harton GL, Sisson ME, Black SH, Stern HJ, Gelman-Kohan Z, Shohat M, Tsipouras P. "Novel approach to the molecular diagnosis of Marfan syndrome: application to sporadic cases and in prenatal diagnosis". Am J Med Genet. 2001 Apr 1;99(4):294-302.