Factor XI Variant Database

In Depth Variant Analysis: c.1135+5G>A ()

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c.1135+5G>A

(Legacy AA No. 360)

Variant Type:

Point

Domain:

Intronic

Codon Change:

G>A

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

281714

Allele Frequency *:

0.000021

Variant Comments & Reference:

Saunders et al 2009

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
249			UK Population	73		Heterozygote		Not Reported		Mitchell et al 2006

Residue Information:

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

Substitution Analysis:

Structural Implications:

378 is an exposed residue (surface accessibility value = 2 ).

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

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

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