Factor XI Variant Database

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

c.44C>T

p.Ser15Leu (Legacy AA No. -4)

Variant Type:

Point

Domain:

Signal Peptide

Codon Change:

C>T

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

Quelin et al 2006

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
190	36	F	Morrocan	3	3	Homozygote		Not Reported		Quelin et al 2006

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Ser	-	acyclic	small	surface	hydrophilic	neutral
Mutated	Leu	aliphatic	acyclic	large	buried	hydrophobic	neutral

Grantham Score : 145

PolyPhen-2 Prediction : Benign (SCORE: 0.006)

SIFT Prediction : Probably Damaging (SCORE: 0.00)

PROVEAN Prediction : Neutral (SCORE: -0.686)

Ser15 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