Factor V Variant Database

In-Depth Variant Analysis: c.833A>G (p.Gln278Arg)

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c.833A>G

p.Gln278Arg (Legacy AA No. 250)

Variant Type:

Point

Domain:

d5A1

Location:

Exon 6

Variant Effect:

Missense

Codon Change:

833A>G

No. of Patients Reported:

Phenotype:

Asymptomatic

Allele Count *:

Allele Number *:

Allele Frequency *:

Variant Comments & Reference:

bleeding after invasive procedures

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
98	NA	M	NA	42	NA	NA	NA	Heterozygous		Asymptomatic	bleeding after invasive procedures	Delev et al 2009

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Gln	-	acyclic	large	surface	hydrophilic	neutral
Mutated	Arg	basic	acyclic	large	surface	hydrophilic	postive

Substitution Analysis:

Grantham Score : 43

Structural Implications:

FV: Gln278 is a buried residue (surface accessibility value = 1 ).

FVa: Gln278 is a buried residue (surface accessibility value = 0 ).

Gln278 is in a region of secondary structure within the FV domains.

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

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