Factor XI Variant Database

In Depth Variant Analysis: c.449C>T (p.Thr150Met)

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c.449C>T

p.Thr150Met (Legacy AA No. 132)

Variant Type:

Point

Domain:

Apple 2

Codon Change:

C>T

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

251286

Allele Frequency *:

0.000004

Variant Comments & Reference:

Mitchell et al 2006, Saunders et al 2009, Tiscia et al 2017

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
408				2	2	Compound heterozygote	c.1432G>A (p.Gly478Arg)	Not Reported		Saunders et al 2009
409				23		Heterozygote		Not Reported		Mitchell et al 2006
535	27	M	Italian	34		Heterozygote		Not Reported	Epistaxis	Tiscia et al 2017
536	49	M	Italian	52		Heterozygote		Not Reported	Asymptomatic	Tiscia et al 2017
537	12	M	Italian	37		Heterozygote		Not Reported	Asymptomatic	Tiscia et al 2017
538	43	M	Italian	43		Heterozygote		Not Reported	Asymptomatic	Tiscia et al 2017

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Thr	-	acyclic	medium	surface	hydrophilic	neutral
Mutated	Met	-	acyclic	large	buried	hydrophobic	neutral

Substitution Analysis:

Grantham Score : 81

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

SIFT Prediction : Probably Damaging (SCORE: 0.00)

PROVEAN Prediction : Neutral (SCORE: -2.449)

Structural Implications:

Thr150 is a buried residue (surface accessibility value = 0 ).

Thr150 is in a region of secondary structure within the FXI domains.

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

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