Factor XI Variant Database

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

c.938G>T

p.Ser313Ile (Legacy AA No. 295)

Variant Type:

Point

Domain:

Apple 4

Codon Change:

G>T

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

Variant predicted to disrupt hydrogen-bond formation, altering protein structure and function. Wang et al 2019, Xia et al 2020

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
640	32	F	Chinese	2	5.4	Compound heterozygote	c.738G>A (p.Trp246*)	Not Reported	Heavy menorrhagia and delayed wound healing	Wang et al 2019
641		M	Chinese	41	47.4	Heterozygote		Not Reported	No bleeding disorders	Wang et al 2019
643		F	Chinese	58	63.1	Heterozygote		Not Reported	No bleeding disorders	Wang et al 2019
646		M	Chinese	57	59.8	Heterozygote		Not Reported	No bleeding disorders	Wang et al 2019
667		F				Compound heterozygote	c.738G>A (p.Trp246*)	Not Reported	Reduced FXI activity and antigen levels to 10% and 15% of normal, respectively.	Xia et al 2020
668		F				Compound heterozygote	c.738G>A (p.Trp246*)	Not Reported	Reduced FXI activity and antigen levels to 2% and 11.5% of normal, respectively.	Xia et al 2020
672		M				Heterozygote		Not Reported		Xia et al 2020
673		F				Heterozygote		Not Reported		Xia et al 2020

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Factor XI Variant Database

Factor XI Gene (F11)