Factor V Variant Database

In-Depth Variant Analysis: c.479C>G (p.Pro160Arg)

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c.479C>G

p.Pro160Arg (Legacy AA No. 132)

Variant Type:

Point

Domain:

d5A1

Location:

Exon 4

Variant Effect:

Missense

Codon Change:

479C>G

No. of Patients Reported:

Phenotype:

Severe

Allele Count *:

Allele Number *:

Allele Frequency *:

Variant Comments & Reference:

GI bleeding following birth treated with fresh-frozen plasma; heterozygous for p.Met2148Thr

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
56	NA	M	NA	0	NA	<1	NA	Heterozygous	c.5752delA (p.Ile1918Tyrfs*19)	Severe	GI bleeding following birth treated with fresh-frozen plasma; heterozygous for p.Met2148Thr	Paraboschi et al 2012
57	NA	M	NA	53	NA	61	NA	Heterozygous		Asymptomatic	NA	Paraboschi et al 2012
674	NA	M	NA	<1	NA	<1	NA	Heterozygous	c.5752delA (p.Ile1918Tyrfs*19)	Severe	GI bleeding after birth requiring fresh-frozen plasma; heterozygous for p.Met2148Thr	Paraboschi et al 2012

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Pro	-	cyclic	medium	surface	hydrophobic	neutral
Mutated	Arg	basic	acyclic	large	surface	hydrophilic	postive

Substitution Analysis:

Grantham Score : 103

PolyPhen-2 Prediction : probably damaging (SCORE: 0.966)

SIFT Prediction : Probably Damaging (SCORE: 0.00)

PROVEAN Prediction : Deleterious (SCORE: -8.273)

Structural Implications:

FV: Pro160 is a buried residue (surface accessibility value = 0 ).

FVa: Pro160 is a buried residue (surface accessibility value = 0 ).

Pro160 is in a region of secondary structure within the FV domains.

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

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