Factor V Variant Database

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c.4634C>T

p.Pro1545Leu (Legacy AA No. 1517)

Variant Type:

Point

Domain:

d5a3

Location:

Exon 13

Variant Effect:

Missense

Codon Change:

4634C>T

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

251176

Allele Frequency *:

0.00002

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
525	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 870844

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

Grantham Score : 98

PolyPhen-2 Prediction : probably damaging (SCORE: 0.971)

SIFT Prediction : Probably Damaging (SCORE: 0.03)

PROVEAN Prediction : Neutral (SCORE: -1.674)

Pro1545 is in a region on the surface of the FV structure that is undefined. Hence the FV structure and its JMOL applet are not shown below.

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Factor X Variant Database