Factor XI Variant Database

Search Results: 1 unique variant retrieved.

Terms with a '*' next to them are explained on the Help Page .

c.1393G>T

p.Glu465* (Legacy AA No. 447)

Variant Type:

Point

Domain:

Serine Protease

Codon Change:

G>T

Variant Effect:

Nonsense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

Variant Comments & Reference:

The G to T transversion in exon 12 results in a nonsense mutation Glu465* which leads to the disruption of the catalytic domain structure of the FXI molecule. Tsukahara et al 2003

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
69	25	M	Japanese	Undetectable	Undetectable	Compound heterozygote	c.1556insG	Severe	Asymptomatic - no abnormal bleeding history.	Tsukahara et al 2003

Structural Interpretation:

Structural analysis cannot be performed on this (Point | Nonsense) variant.

Factor XI Variant Database

Factor XI Gene (F11)

Variant Database

Search Results: 1 unique variant retrieved.

Variant Comments & Reference:

Patient Information: Show

Structural Interpretation: