Factor XI Variant Database

In Depth Variant Analysis: c.1448T>C (p.Leu483Ser)

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c.1448T>C

p.Leu483Ser (Legacy AA No. 465)

Variant Type:

Point

Domain:

Serine Protease

Codon Change:

T>C

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

Variant Comments & Reference:

Kawankar et al 2016

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
630	42	M	Indian	34		Heterozygote		Not Reported	Post traumatic joint bleed	Kawankar et al 2016

Residue Information:

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

Substitution Analysis:

Grantham Score : 145

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

SIFT Prediction : Probably Damaging (SCORE: 0.00)

PROVEAN Prediction : Deleterious (SCORE: -5.310)

Structural Implications:

Leu483 is a buried residue (surface accessibility value = 0 ).

Leu483 is in a region of secondary structure within the FXI domains.

The DSSP assignment for this residue is ... E.

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