Factor V Variant Database

In-Depth Variant Analysis: c.430C>A (p.Pro144Thr)

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c.430C>A

p.Pro144Thr (Legacy AA No. 116)

Variant Type:

Point

Domain:

d5A1

Location:

Exon 4

Variant Effect:

Missense

Codon Change:

430C>A

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

Variant Comments & Reference:

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
45	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	Baz et al 2021

Residue Information:

	Name	Type	Cyclic	Size	Position	Hydrophobicity	Charge
Wild Type	Pro	-	cyclic	medium	surface	hydrophobic	neutral
Mutated	Thr	-	acyclic	medium	surface	hydrophilic	neutral

Substitution Analysis:

Grantham Score : 38

PolyPhen-2 Prediction : probably damaging (SCORE: 0.981)

SIFT Prediction : Probably Damaging (SCORE: 0.00)

PROVEAN Prediction : Deleterious (SCORE: -7.054)

Structural Implications:

FV: Pro144 is an exposed residue (surface accessibility value = 3 ).

FVa: Pro144 is an exposed residue (surface accessibility value = 4 ).

Pro144 is in a random coil area of the FV structure.

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

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