Factor XI Variant Database

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

c.1480+2T>G

(Legacy AA No. 476)

Variant Type:

Point

Domain:

Serine Protease

Codon Change:

T>G

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

Zucker et al 2007

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
489	29	F	Ashkenazi Jewish	38	20	Heterozygote		Not Reported	Patient has no bleeding Hx.

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Asp	acidic	acyclic	medium	surface	hydrophilic	negative
Mutated	-	-	-	-	-	-	-