Factor XI Variant Database

Search Results: 1 unique variant retrieved.

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

c.126C>G

p.Ser42Arg (Legacy AA No. 24)

Variant Type:

Point

Domain:

Apple 1

Codon Change:

C>G

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

Variant Comments & Reference:

Ser42Arg lies at the start of helix A1 within the Ap1 domain. In the crystal structure, this sidechain points towards the interdomain contacts with the Ap2 domain and the replacement with a larger charged residue is predicted to affect the protein structure. Saunders et al 2009

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
402				29		Heterozygote		Not Reported		Saunders et al 2009
616	44	F	Chinese	2		Compound heterozygote	c.326-1G>A	Not Reported	Bleeding following injury/surgery and menorrhagia	Shao et al 2016

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: