Factor XI Variant Database

Search Results: 2 unique variants retrieved

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

c.214C>T

p.Arg72* (Legacy AA No. 54)

Variant Type:

Point

Domain:

Apple 1

Codon Change:

C>T

Variant Effect:

Nonsense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

251432

Allele Frequency *:

0.000004

Variant Comments & Reference:

Castaman et al 2005

Patient Information: Show

Structural Interpretation:

Structural analysis cannot be performed on this (Point | Nonsense) variant.

c.215G>C

p.Arg72Pro (Legacy AA No. 54)

Variant Type:

Point

Domain:

Apple 1

Codon Change:

G>C

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

Variant Comments & Reference:

Arg72 is part of an elaborated turning loop connecting the fourth and fifth strands. Electrostatic interactions among Arg72, Glu68 and Asp69 help to maintain the loop architecture. The Arg72Pro mutation eliminates these interactions and results in three close Pro residues, making the loop quite rigid and altering its structure and electrostatic surface. Spena et al 2009

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
512		F	Czech	63	77	Heterozygote		Not Reported	FXI:C/FXI:Ag ratio = 0.81. Patient is asymptomatic: four dental extractions, tonsillectomy and one delivery without prophylaxis.	Spena et al 2009

Structural Interpretation:

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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: