The UMD-FBN1 mutations database
Record ID: 687

Mutation description

Variation name (cDNA level)	Variation name (protein level)	Variation status	Variation class
c.365_366delGC	p.Arg122LeufsX6	Heterozygous	Mutation

wt codon	wt aa	mutant codon	mutant aa	mutational event	mutation type
CGC	Arg	del2b	Fs.	Stop at 127	Fr.

Structure	Key Residue (HCD)	Pyrimidin doublet	CpG
EGF-like #02		Yes, coding strand

Mutation impact

At the mRNA level	On restriction map
No mechanism suspected	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
AUS02WES F0002 I01	Proband	NA	NA	35 years old		AUSTRALIA

Phenotypic group	Disease
NA	Classical MFS

Clinical data

Symptom

C-Asc. aortic dilatation

C-Mitral valve prolapse

O-Ectopia lentis

S-Crowding teeth (m)

S-High arched palate

S-Joint hypermobility (m)

S-Reduced US/LS ratio <0.87 (M)

S-Reduced US/LS ratio <0.87 (M)

S-Reduced US/LS ratio <0.87 (M)

S-Scoliosis > 20° (M)(1)

SI-Significant striae atrophicae (m)(1)

Reference

Reference ID	PubMed ID	Reference
114	14695540	Biggin A, Holman K, Brett M, Bennetts B, Ades L. "Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy". Hum Mutat. 2004 Jan;23(1):99.