Factor X Variant Database

In-Depth Variant Analysis: c.405C>A (p.Asp135Glu)

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c.405C>A

p.Asp135Glu (Legacy AA No. 95)

Variant Type:

Point

Domain:

EGF-2

Location:

Exon 5

Variant Effect:

Missense

Codon Change:

C>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

Variant Comments & Reference:

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FX:C(%)	FX:C (IU/dl)	FX:Ag(%)	FX:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
83	30	M	Iranian	2		4		Homozygous	c.400G>A (p.Gly134Arg)	Severe	Hematomas, hemarthosis, epistaxis, oral bleeds. Related to pa_id: 84.	Peyvandi et al 2002
84	16	M	Iranian	<1		3		Homozygous	c.400G>A (p.Gly134Arg)	Severe	Hematomas, hemarthosis, epistaxis, oral bleeds. Related to pa_id: 83.	Peyvandi et al 2002

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Asp	acidic	acyclic	medium	surface	hydrophilic	negative
Mutated	Glu	acidic	acyclic	large	surface	hydrophilic	negative

Substitution Analysis:

Grantham Score : 45

PolyPhen-2 Prediction : Benign (SCORE: 0.000)

SIFT Prediction : Tolerated (SCORE: 0.28)

PROVEAN Prediction : Neutral (SCORE: -1.000)

Structural Implications:

Asp135 is an exposed residue (surface accessibility value = 2 ).

Asp135 is in a region of secondary structure within the FX domains.

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

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