Factor XI Variant Database

In Depth Variant Analysis: c.1507T>C (p.Ser503Pro)

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c.1507T>C

p.Ser503Pro (Legacy AA No. 485)

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:

Ser503Pro converts hydrophilic small sized Ser to hydrophobic, large Pro in the buried region of the SP domain. Ser503 is in the random coil area of the structure, and may cause damaging structural effects. Fard-Esfahani et al 2008

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
492	12	M	Iranian	<1		Homozygote		Severe	Off-spring of consanguineous parents. Hx of moderate haemorrhage after abdominal surgery.	Fard-Esfahani et al 2008

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Ser	-	acyclic	small	surface	hydrophilic	neutral
Mutated	Pro	-	cyclic	medium	surface	hydrophobic	neutral

Substitution Analysis:

Grantham Score : 74

PolyPhen-2 Prediction : Probably Damaging (SCORE: 0.998)

SIFT Prediction : Tolerated (SCORE: 0.06)

PROVEAN Prediction : Neutral (SCORE: -2.175)

Structural Implications:

Ser503 is a buried residue (surface accessibility value = 0 ).

Ser503 is in a random coil area of the FXI structure.

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

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