Factor X Variant Database

In-Depth Variant Analysis: c.1073C>T (p.Thr358Met)

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c.1073C>T

p.Thr358Met (Legacy AA No. 318)

Variant Type:

Point

Domain:

Serine protease

Location:

Exon 8

Variant Effect:

Missense

Codon Change:

C>T

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

250316

Allele Frequency *:

0.000016

Variant Comments & Reference:

Variant disrupts FX catalytic activity without interfering with FX structure (FX Roma). Legacy cDNA numbering in paper - Leytus et al 1986 (c.1098C>T)

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	FX:C(%)	FX:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
295			3		Homozygous		Not Reported		Odom et al 1994
296	13	F		80	Homozygous		Not Reported	Post-traumatic hematoma, severe tonsillar bleeding, easy bruising, epistaxis. Related to pa_id: 297 & 298.	De Stefano et al 1988
297		M		80	Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 296.	De Stefano et al 1988
298		F		100	Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 296.	De Stefano et al 1988
34			<1	64	Heterozygous	c.1087G>A (p.Gly363Ser)	Severe	Haemarthroses. Related to pa_id: 35 & 36.	Millar et al 2000
36		M		113	Heterozygous		Not Reported	Related to pa_id: 34.	Millar et al 2000
40			<1	100	Homozygous		Mild	Epistaxis.	Millar et al 2000

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: 0.967)

SIFT Prediction : Tolerated (SCORE: 0.11)

PROVEAN Prediction : Neutral (SCORE: -1.483)

Structural Implications:

Thr358 is a buried residue (surface accessibility value = 1 ).

Thr358 is in a region of secondary structure within the FX domains.

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

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