Factor XI Variant Database

Search Results: 1 unique variant retrieved.

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

c.434A>G

p.His145Arg (Legacy AA No. 127)

Variant Type:

Point

Domain:

Apple 2

Codon Change:

A>G

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

282700

Allele Frequency *:

0.000138

Variant Comments & Reference:

The His145Arg mutation occurs adjacent to the Cys140-Cys146 disulphide pairing in Ap2, responsible for creating the substrate binding site in FXIa. Castaman et al 2007 (ISTH Poster Abstract), Castaman et al 2013, Peng et al 2020

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
611	45	F	Indonesian	27	125	Heterozygote		Not Reported	Asymptomatic	Cataman et al 2013
612	14	M	Indonesian	52	118	Heterozygote		Not Reported	Asymptomatic	Cataman et al 2013
613	12	M	Indonesian	56	157	Heterozygote		Not Reported	Asymptomatic	Cataman et al 2013
655	13	M	Taiwanese	7		Compound heterozygote	c.841C>T (p.Gln281*)	Not Reported	Easy bruising (Grade II bleeding)	Lin et al 2020

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: