Factor V Variant Database

In-Depth Variant Analysis: c.566C>T (p.Pro189Leu)

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c.566C>T

p.Pro189Leu (Legacy AA No. 161)

Variant Type:

Point

Domain:

d5A1

Location:

Exon 4

Variant Effect:

Missense

Codon Change:

566C>T

No. of Patients Reported:

Phenotype:

Asymptomatic

Allele Count *:

Allele Number *:

282760

Allele Frequency *:

0.000103

Variant Comments & Reference:

mild menorrhagia

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
67	NA	F	NA	44	NA	NA	NA	Heterozygous		Asymptomatic	mild menorrhagia	Al-Numair et al 2019

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Pro	-	cyclic	medium	surface	hydrophobic	neutral
Mutated	Leu	aliphatic	acyclic	large	buried	hydrophobic	neutral

Substitution Analysis:

Grantham Score : 98

PolyPhen-2 Prediction : probably damaging (SCORE: 0.976)

SIFT Prediction : Probably Damaging (SCORE: 0.00)

PROVEAN Prediction : Deleterious (SCORE: -5.759)

Structural Implications:

FV: Pro189 is a buried residue (surface accessibility value = 0 ).

FVa: Pro189 is a buried residue (surface accessibility value = 0 ).

Pro189 is in a region of secondary structure within the FV domains.

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

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