Factor XI Variant Database

Search Results: 1 unique variant retrieved.

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

c.296C>A

p.Ser99Tyr (Legacy AA No. 81)

Variant Type:

Point

Domain:

Apple 1

Codon Change:

C>A

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

251272

Allele Frequency *:

0.000004

Variant Comments & Reference:

Ser99Tyr is fully buried at the end of Î²-strand G in the Ap1 domain, thus the replacement with a bulky Tyr residue is expected to disrupt the protein folding. Saunders et al 2009

Patient Information: Show

Structural Interpretation:

Please click HERE for in-depth variant analysis.

Factor XI Variant Database

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
403				57		Heterozygote		Not Reported		Saunders et al 2009
439				57		Heterozygote		Not Reported		Saunders et al 2009

Factor XI Gene (F11)

Variant Database

Search Results: 1 unique variant retrieved.

Variant Comments & Reference:

Patient Information: Show

Structural Interpretation: