Factor XI Variant Database

In Depth Variant Analysis: c.1211C>A (p.Thr404Asn)

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c.1211C>A

p.Thr404Asn (Legacy AA No. 386)

Variant Type:

Point

Domain:

Serine Protease

Codon Change:

C>A

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

Variant Comments & Reference:

Saunders et al 2005

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Severity	Comments	Reference
32	8	F	Arab	2	Decreased	Homozygote	Severe	No history of abnormal bleeding and no surgery. Received fresh frozen plasma at age 8 for release of tethered spinal cord without unusual bleeding.	Wistinghausen et al 1997
33		M	Arab	2	Decreased	Homozygote	Severe	Minor bleeding following surgery on patients nose.	Wistinghausen et al 1997
34		F	Arab	108	Normal	Heterozygote	Mild		Wistinghausen et al 1997

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Thr	-	acyclic	medium	surface	hydrophilic	neutral
Mutated	Asn	-	acyclic	medium	surface	hydrophilic	neutral

Substitution Analysis:

Grantham Score : 65

PolyPhen-2 Prediction : Possibly Damaging (SCORE: 0.951)

SIFT Prediction : Probably Damaging (SCORE: 0.01)

PROVEAN Prediction : Neutral (SCORE: -0.461)

Structural Implications:

Thr404 is a buried residue (surface accessibility value = 0 ).

Thr404 is in a region of secondary structure within the FXI domains.

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

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