Factor XI Variant Database

In Depth Variant Analysis: c.1789G>A (p.Glu597Lys)

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c.1789G>A

p.Glu597Lys (Legacy AA No. 579)

Variant Type:

Point

Domain:

Serine Protease

Codon Change:

G>A

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

251490

Allele Frequency *:

0.000004

Variant Comments & Reference:

Glu597Lys affects overall protein charge. A given patient presented with low levels of FXI activity (15 iu/dL), either due to an undetected mutation in the experimental procedure or due to the fact that Glu597Lys is a dominant mutation that can exert a negative effect on secretion of wild-type FXI. Such dominant mutants have already been described: Trp587Ser, Thr593Met and Ser594Arg. Interestingly, the four mutations are located with in the same 10-amino acid strand, suggesting a critical role for this segment in the dimerisation process. Quelin et al 2006

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
502	28	F		15		Heterozygote		Not Reported	No spontaneous bleeding symptoms. No bleeding after delivery, and tubectomy and ovariectomy.	Quelin et al 2006

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Glu	acidic	acyclic	large	surface	hydrophilic	negative
Mutated	Lys	basic	acyclic	large	surface	hydrophilic	postive

Substitution Analysis:

Grantham Score : 56

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

SIFT Prediction : Tolerated (SCORE: 0.05)

PROVEAN Prediction : Neutral (SCORE: -1.879)

Structural Implications:

Glu597 is an exposed residue (surface accessibility value = 5 ).

Glu597 is in a random coil area of the FXI structure.

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

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