Factor XI Variant Database

Search Results: 1 unique variant retrieved.

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

c.3G>T

p.Met1Ile (Legacy AA No. -18)

Variant Type:

Point

Domain:

Signal Peptide

Codon Change:

G>T

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

31402

Allele Frequency *:

0.000032

Variant Comments & Reference:

Mutations affecting the ATG initiation codon have not been widely reported, and the loss of the initiation methionine in the Met1Ile variant was expected to be severely detrimental to protein synthesis and secretion. Expression studies show that no FXI is secreted, but surprisingly apparently normal (160 kDa) dimeric FXI was detected by western blot from cell lysates. Mitchell et al 2007

Patient Information: Show

Patient_ID	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Reference
214	UK Population	<1	<3	Compound heterozygote	c.438C>A (p.Cys146*)	Severe	Mitchell et al 2006
215	UK population			Heterozygote		Not Reported	Mitchell et al 2006
373		43		Heterozygote		Not Reported	Mitchell et al 2007

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: