Factor XI Variant Database

Search Results: 1 unique variant retrieved.

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

c.973G>T

p.Val325Phe (Legacy AA No. 307)

Variant Type:

Point

Domain:

Apple 4

Codon Change:

G>T

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

251386

Allele Frequency *:

0.000008

Variant Comments & Reference:

Val325Phe is located buried at the surface of the Ap4 domain, and lies at the interface between the Ap1 and Ap4 domains, thus this mutation may disrupt the packing between the Ap domains. Saunders et al 2009

Patient Information: Show

Patient_ID	FXI:C%	Inheritance	Severity	Reference
432	55	Heterozygote	Not Reported	Saunders et al 2009
433	52	Heterozygote	Not Reported	Saunders et al 2009
434	50	Heterozygote	Not Reported	Saunders et al 2009

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: