Factor XI Variant Database

Search Results: 1 unique variant retrieved.

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

c.1546G>A

p.Val516Met (Legacy AA No. 498)

Variant Type:

Point

Domain:

Serine Protease

Codon Change:

G>A

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

251456

Allele Frequency *:

0.000028

Variant Comments & Reference:

Val516 is highly conserved across different species. The Val516Met mutation generates an ectopic Met residue close to the disulphide bond between C514 and C581. Bioinformatics studies using surface mapping of the evolutionary conservation level revealed that Val498 is a functionally important residue. Kwon et al 2008

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
493				1		Compound heterozygote	c.1560dupG	Not Reported	Clinically, the patient experienced no significant episodes of bleeding even in operation and delivery, despite the severely decreased FXI activity at 1%. Patient has a prolonged aPTT: 69.3 s.	Kwon 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: