Factor XI Variant Database

Search Results: 1 unique variant retrieved.

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

c.716T>C

p.Phe239Ser (Legacy AA No. 221)

Variant Type:

Point

Domain:

Apple 3

Codon Change:

T>C

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

Variant Comments & Reference:

Transient expression experiment revealed secretion of Phe239Ser FXI was significantly reduced compared with that of wild-type FXI. Morishita et al 2003 (Abstract), Okumura et al 2006

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Reference
47			Japanese			Compound heterozygote	c.1556insG	Severe	Morishita et al 2003 (Abstract)
423	43	M	Japanese	<3	7	Homozygote		Severe	Okumura et al 2006
424			Japanese			Compound heterozygote	c.1556insG	Not Reported	Kuroda et al 2005 (Abstract)

Structural Interpretation:

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Factor XI Variant Database

Factor XI Gene (F11)

Variant Database

Search Results: 1 unique variant retrieved.

Variant Comments & Reference:

Patient Information: Show

Structural Interpretation: