Factor XI Variant Database

Search Results: 2 unique variants retrieved

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

Unspecified (R326H)

p.Arg326His (Legacy AA No. 308)

Variant Type:

Point

Domain:

Apple 4

Codon Change:

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

Variant Comments & Reference:

Shao et al 2016

Patient Information: Show

Structural Interpretation:

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c.976C>T

p.Arg326Cys (Legacy AA No. 308)

Variant Type:

Point

Domain:

Apple 4

Codon Change:

C>T

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

251384

Allele Frequency *:

0.000024

Variant Comments & Reference:

Introduction of a Cys residue may disrupt disulphide bridge formation. Arg326 lies close to the part of the Ap4 domain responsible for extensive non-covalent interactions between the FXI monomers. Saunders et al 2009

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
19				41	33	Heterozygote		Mild	History of easy bruising.	Mitchell et al 1999
243			UK Population	43	33	Heterozygote		Not Reported		Mitchell et al 2006
436	85	F	Australian	52		Compound heterozygote	c.809A>T (p.Lys270Ile)	Not Reported	Median aPTT time: 46 seconds.	Duncan et al 2008
437				36		Heterozygote		Not Reported		Saunders et al 2009

Structural Interpretation:

Please click HERE for in-depth variant analysis.

Factor XI Variant Database

Factor XI Gene (F11)

Variant Database

Search Results: 2 unique variants retrieved

Variant Comments & Reference:

Patient Information: Show

Structural Interpretation:

Variant Comments & Reference:

Patient Information: Show

Structural Interpretation: