Factor XI Variant Database

In Depth Variant Analysis: c.122C>T (p.Pro41Leu)

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c.122C>T

p.Pro41Leu (Legacy AA No. 23)

Variant Type:

Point

Domain:

Apple 1

Codon Change:

C>T

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

Variant Comments & Reference:

Quelin et al 2005

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
199	34	F	French	30	39	Heterozygote		Not Reported		Quelin et al 2005

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Pro	-	cyclic	medium	surface	hydrophobic	neutral
Mutated	Leu	aliphatic	acyclic	large	buried	hydrophobic	neutral

Substitution Analysis:

Grantham Score : 98

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

SIFT Prediction : Probably Damaging (SCORE: 0.00)

PROVEAN Prediction : Deleterious (SCORE: -5.174)

Structural Implications:

Pro41 is a buried residue (surface accessibility value = 0 ).

Pro41 is in a region of secondary structure within the FXI domains.

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

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