Factor XI Variant Database

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c.1796G>A

p.Cys599Tyr (Legacy AA No. 581)

Variant Type:

Point

Domain:

Serine Protease

Codon Change:

G>A

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

Disrupts the Cys571-Cys599 bond in the catalytic domain of FXIa. Esteban et al 2017

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
601	47	F	Spanish	3		Compound heterozygote	c.1608G>C (p.Lys536Asn)	Not Reported		Esteban et al 2017

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Cys	-	acyclic	medium	buried	hydrophilic	neutral
Mutated	Tyr	aromatic	cyclic	large	surface	hydrophobic	neutral

Grantham Score : 194

PolyPhen-2 Prediction : Probably Damaging (SCORE: 1.000)

SIFT Prediction : Probably Damaging (SCORE: 0.00)

PROVEAN Prediction : Deleterious (SCORE: -9.167)

Cys599 is in a region on the surface of the FXI structure that is undefined. Hence the FXI structure and its JMOL applet are not shown below.

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Factor XI Variant Database