Factor X Variant Database

In-Depth Variant Analysis: c.176A>C (p.Glu59Ala)

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c.176A>C

p.Glu59Ala (Legacy AA No. 19)

Variant Type:

Point

Domain:

Gla domain

Location:

Exon 2

Variant Effect:

Missense

Codon Change:

A>C

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

282886

Allele Frequency *:

0.000007

Variant Comments & Reference:

Variant interferes with FX activation (particularly extrinsic) and affects FX secretion and stability. Legacy cDNA numbering in paper - Leytus et al 1986 (c.201A>C)

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:Ag(%)	Inheritance	Severity	Comments	Reference
150	50	F	Italian	17	Homozygous	Not Reported	Moderate hemorrhage after labour, metrorrhagia episodes. Related to pa_id: 151, 152 & 153.	Pinotti et al 2002
151		F	Italian		Heterozygous	Asymptomatic	Asymptomatic. Related to pa_id: 150, 152 & 153.	Pinotti et al 2002
152		F	Italian		Heterozygous	Asymptomatic	Asymptomatic. Related to pa_id: 150, 151 & 153.	Pinotti et al 2002
153		F	Italian		Heterozygous	Asymptomatic	Asymptomatic. Related to pa_id: 150, 151 & 152.	Pinotti et al 2002

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Glu	acidic	acyclic	large	surface	hydrophilic	negative
Mutated	Ala	aliphatic	acyclic	small	buried	hydrophobic	neutral

Substitution Analysis:

Grantham Score : 107

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

SIFT Prediction : Probably Damaging (SCORE: 0.00)

PROVEAN Prediction : Deleterious (SCORE: -5.374)

Structural Implications:

Glu59 is an exposed residue (surface accessibility value = 5 ).

Glu59 is in a region of secondary structure within the FX domains.

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

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