Factor XI Variant Database

Search Results: 1 unique variant retrieved.

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

c.1217A>C

p.His406Pro (Legacy AA No. 388)

Variant Type:

Point

Domain:

Serine Protease

Codon Change:

A>C

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

Variant Comments & Reference:

His406 is not charged but is involved in two polar contacts with Arg443 on the opposite beta strand. A turn induced by Pro is likely to disrupt the beta sheet structure. de Raucourt et al 2008

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
469	32	F	French	0.36	0.37	Heterozygote		Severe	No personal or familial abnormal bleeding Hx. Routine coagulation tests performed before a lipoma resection revealed an isolated partial FXI deficiency. Surgical procedure was performed with antifibrinolytic treatment without any complication.	de Raucourt et al 2008

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: